Genetics Term Paper

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Genetics Term Paper

Genevieve Houston-Ludlam
Genetics BSCI 222H, Fall 2002
University of Maryland Printed with the permission of the author

Trisomy-21, known more commonly as Down syndrome (DS), is the most common genetic cause of mental retardation in the human population, affecting approximately 1 out of every 704-780 pregnancies (1). In addition to mental retardation (2) and impairments in motor skills (3) and speech (4), numerous degenerative health problems are associated with DS, such as frequent illness due to a suppressed immune system (5) increased frequency of autoimmune disorders (6), accelerated aging (7), increased incidence of leukemia (8), increased incidence of endocrine dysfunction (9), neuronal death (10), reduction in neurotransmitters (11) and increased frequency and earlier onset of Alzheimer disease (12).

There are two basic opinions about the situation of people with DS. The current mainstream opinion is that DS is a genetic disorder, and therefore cannot be fundamentally changed. The emerging alternative view is that this disease is the result of multiple interacting gene overexpressions, essentially multiple inborn errors of metabolism, and if we can discover ways to normalize gene function by either controlling the conditions for gene expression, or rebalancing the resulting biochemical dysregulation, that we can mitigate some of the resulting disease. For example, the gene SOD1, located on chromosome 21, is overexpressed, and the resulting oxidative stress can account for much of the neuronal loss and premature aging seen in DS. (13,14) Consequently, antioxidant therapy through diet and supplementation, may be extremely helpful in improving the health and intellectual potential of people with DS(15). Other nutritional interventions including zinc and factors supporting the interrelated folic acid and SAMe cycles also show potential for benefit.(16)

Human Chromosome 21 was first mapped in May, 2000. (17) Much is known about many of the genes that are on chromosome 21, and that knowledge is scattered throughout a variety of online databases and the medical literature in the form of individual articles. The OMIM genome database (18) contains the name and location of the genes, and links for various references into Medline (19). Information about enzymes is contained in the ExPASy (20) database. The gene names do not always match the enzyme names in ExPASy due to the differences in naming conventions used by different scientific disciplines.

I have taken each gene on Chromosome 21, as listed in the original article from Nature publishing the complete sequence of the chromosome, and included the following information:

The gene name as listed in the original article sequencing chromosome 21,
The gene location, with a link into OMIM (recognized genes) and if no OMIM record existed, a link into Nucleotide (mostly pseudogenes and predicted genes)
The EC number with a link into the appropriate record in the EXPASY database if the gene in question is an enzyme (or predicted to be) and is identified to the specific enzyme,
The full name of the gene as listed in the original article (with changes if newer information was in OMIM),
Category of this gene as follows:
1. E for an enzyme,
2. S for a structural protein (eg. A subunit of collagen),
3. F for a functional protein (eg. Something that supports cellular processes such as a receptor or drug resistance),
4. T for a gene related to transcription, translation, replication or gene regulation,
5. P for a pseudogene, and
6. U for unknown in the original publication and I could find no further elucidation in the research.
Genes were categorized into a particular category even if it was a subunit of that particular type of protein, or if the gene was a putative gene in that category. Consequently, the number of genes in a functional category (enzyme, structural, functional or transcription related) may not represent fully functional proteins.
For enzymes, evidence of overexpression of this particular gene, and a link into Medline with the evidence. Categories are Y if there is evidence that it is overexpressed, N if there is evidence that it is not overexpressed, or NE for no evidence one way or the other. For gene PDE9A, there was an enzyme that was similar to the enzyme name, but not exact, that was identified as overexpressed, so it was categorized as NE, with a link to the paper in question. No attempt was made to look for enzymes that had only been categorized to family and not specific enzyme.

When completing this project, there were some discrepancies in the databases that I was not able to resolve. PRED41, UMODL1 and KAPcluster were not located in either the Nucleotide or the OMIM databases. KIAA0635 was only listed in Homo sapiens for chromosome 4, with no listing in for chromosome 21. Further, there were several genes listed in OMIM as belonging to chromosome 21 that could not be reconciled with the list in the sequence as follows: TAM, USH1E, CRFB4, GANP/MAP80, ITGB2, KNO, SFRS2IP, TMEM1, AABT.

For the enzymes, there were a number of enzymes that were identified to the enzyme family, but not specific enzymes. There were no appropriate pages in ExPASy to link to, so links were not included for those enzymes.

In a sense, this project is a catalog of what we already know about this chromosome, particularly as it relates to DS. It is hoped that by gathering together what we already know about this chromosome, it will assist in generating hypotheses regarding connections between specific genes and the disease processes seen so frequently in DS, with the hope of discovering ways to mitigate these disease processes.

Gene Location Enzyme Enzyme Name Category Over-
expressed
TPTE 21p11 EC 3.1.3.48 Tensin; putative protein-tyrosine phosphatase, EC 3.1.3.48 E NE
CYC1LP4 21p11 Cytochrome c pseudogene P
Pseudo1 21p11 Zinc Finger Protein pseudogene P
PRED1 21p11 EC2.7.1 putative gene, protein kinase E ETA type (EC 2.7.1.) like E
ORLP1 21p11.2 Pheromone receptor pseudogene P
Pseudo1.1 21p11 pseudogene similar to cDNA DKFZp586E1423 P
Pseudo2 21p11 tubulin tyrosine ligase-like 1 pseudogene P
EIF3S5P 21p11 eukaryotic initiation factor-3, subunit 5 pseudogene P
PRED65 21q11.1 putative gene with similarity to zinc finger proteins T
PRED3 21q11.1 putative gene, proto-oncogene protein precursor like T
PRED4 21q11.1 putative gene with similarities to KIAA1074 and KIAA0565 U
ORLP2 21q11.1 Pheromone receptor pseudogene P
CNN2 21q11.1 calponin 2 S
C21orf15 21q11 spliced EST AJ003450 U
CYP4F3LP 21q11 Cytochrome P450 pseudogene P
NF1L1P 21q11.1 neurofibromatosis type 1 pseudogene P
PRED5 21q11.2 putative gene, lipase EC 3.1.1.3 like E
RBM11 21q11.2 putative gene, RNA binding motif protein 11 like T
PRED6 21q11.2 putative gene, multidrug resistance associated protein like F
STCH 21q11.1 human microsomal stress 70 protein ATPase core F
SAMSN-1 21q11.2 gene with homology to KIAA0790 protein U
POLR2CP 21q11.2 pseudogene similar to RNA polymerase H subunits P
NRIP1 21q11.1 nuclear factor RIP140 T
CYC1LP5 21q11.2 Cytochrome c pseudogene P
RAD23BLP 21q11.2 UV excision repair protein pseudogene P
USP25 21q11.2 ubiquitin specific protease USP25 E
RBPMSLP 21q11.2 RNA-binding protein hermes pseudogene P
C21orf34 21q21.1 spliced EST AA451643 U
VDAC2P 21q21.1 voltage-dependent anion channel isoform 2 pseudogene P
C21orf35 21q21.1 spliced EST AW242517 U
C21orf36 21q21.1 spliced EST AA017197 U
C21orf37 21q21.1 spliced EST N47348 U
CXADR 21q21.1 46 kD coxsackievirus and adenovirus receptor (CAR) protein F
BTG3 21q21.1 B-cell translocation gene U
YG81 21q21.1 gene of unknown function, spliced variant EST AI126619 U
C21orf39 21q21.1 spliced EST T74237 U
RL37P 21q21.1 human ribosomal protein L37 pseudogene P
PRED12 21q21.1 putative gene, membrane protein like S
PRSS7 21q21.1 EC 3.4.21.9 human enterokinase E NE
SLC6A6P 21q21.1 taurine transporter processed pseudogene P
RL37P2 21q21.1 human ribosomal protein L37 pseudogene P
C1QBPP 21q21.1 human splicing factor 2 hyaluronic acid-binding protein (SF2p32) pseudogene P
C21orf40 21q21.1 spliced EST AA412132 U
FDPSP 21q21.1 faresyl pyrophosphate synthetase processed pseudogene P
KRT18P2 21q21.1 cytokeratin 18 processed pseudogene P
RPS3AP 21q21.1 ribosomal protein S3 processed pseudogene P
PRED14 21q21.1 human cDNA clone 280692 U
PPIAP 21q21.1 cyclophilin-related processed pseudogene P
NCAM2 21q21 neural cell adhesion molecule 2 precursor F
PRED15 21q21.2 exon prediction only U
PRED16 21q21.2 spiced EST AI188136 U
Pseudo3 21q21.2 ETS-like processed pseudogene P
Pseudo4 21q21.2 ERK3 protein kinase pseudogene P
ZNF299P 21q21.2 zinc finger-like processed pseudogene P
EEF1A1P 21q21.2 human elongation factor EF-1-alpha processed pseudogene P
TUBAP 21q21.2 alpha tubulin (TUBA2) processed pseudogene P
C21orf53 21q21.2 spliced EST W73844 U
RPL13AP 21q21.2 ribosomal protein RPL 13A pseudogene P
C21orf42 21q21.2 spliced EST AA442272 U
PRED21 21q21.2 spliced EST AI016585 U
MRPL39 21q21.3 Mitochondrial Ribosomal Protein L39 (MRPL39) T
PRED22 21q21.2 complete cDNA FLJ20451 U
JAM2 21q21.2 junctional adhesion molecule S
FDXP2 21q21.2 adrenodoxin pseudogene P
ATP5A 21q21.2 human mitochondrial ATPase coupling factor 6 subunit E
GABPA 21q21.2 human nuclear respiratory factor-2 subunit alpha T
APP 21q21.2 human mRNA for amyloid A4 precursor of Alzheimer's disease S
PRED24 21q21.2 gene similar to MARCKS, cDNA DKFZp564P1664 U
ADAMTS1 21q21.2 human metallopoteinase with thrombospondin type 1 motifs E
ADAMTS5 21q21.2 disintegrin-like and metalloprotease with thrombospondin type 1 motif, 5 E
GPXP2 21q21.2 human glutathione peroxidase (GPXP2) pseudogene P
PRED25 21q21.2 exon prediction only U
EIF4A1P 21q21.2 eukaryotic initiation factor 4AI pseudogene P
RPL10P 21q21.2 60S ribosomal protein L 10 pseudogene P
PRED26 21q21.2 exon prediction only U
D21S2073 21q21.2 KIAA0253 pseudogene P
C21orf23 21q21.2 spliced EST AI796012 U
PRED27 21q22.1 exon prediction only U
N6AMT1 21q21.2 putative N6-DNA-methyltransferase E
HSPDP7 21q21.3 human chaperonin pseudogene P
ZNF294 21q22.1 zinc finger protein T
RPL23P2 21q22.11 60S ribosomal protein L 23 pseudogene P
C21orf6 21q22.11 chromosome 21 open reading frame 6 U
USP16 21q22.11 EC 3.1.2.15 human ubiquitin processing protease EC 3.1.2.15 E Y
CCT8 21q22.11 T-complex protein 1, theta subunit S
C21orf7 21q22.3 putative gene, TGF-beta activated kinase like E
GAPDP14 21q22.1 glycerinaldehyde-3-phosphate dehydrogenase pseudogene P
BACH1 21q22.1 transcription regulator protein T
C21orf12 21q22.1 spliced EST R82144 (trapped exon) U
C21orf8 21q22.1 spliced EST AA843704 U
GRIK1 21q22 human glutamate receptor (GLUR5) F
C21orf41 21q22.11 spliced EST N45393 U
C21orf9 21q22.1 spliced EST W58369, nuclear factor T
CLDN17 21q22.11 human CLDN17 gene for claudin-17 S
CLDN8 21q22.1 human CLDN8 gene for claudin-8 S
PRED29 21q22.1 exon prediction only U
PRED30 21q22.1 exon prediction only U
UBE3AP2 21q22.1 ubiquitin protein ligase, processed pseudogene P
TIAM1 21q22.1 human T-lymphoma invasion and metastasis inducing TIAM1 protein T
PRED31 21q22.1 exon prediction only U
BTRC2P 21q22.1 pseudogene similar to BTRC P
SOD1 21q22.1 EC 1.15.1.1 Cu/Zn Superoxide Dismutase E Y
CTBP2 21q21.3 C-terminal binding protein 2 F
HMG14P 21q22.11 nonhistone chromosomal protein HMG-14 pseudogene P
HUNK 21q22 Hormonally upregulated NEU-associated kinase E
C21orf44 21q22.1 spliced EST AW138869 U
C21orf45 21q22.11 spliced EST AI369385 U
KIAA0539 21q22.1 human mRNA for KIAAA0539 protein- open reading frame 108 U
PRED34 21q22.1 putative gene, similar to C. elegans P91865, spliced EST H51862- open reading frame 63 U
C21orf47 21q21.1 spliced EST H51284 U
TCP10L 21q21.1 gene similar to TCP10, spliced ESTs AA465232/T18865 U
SYNJ1 21q22.2 synaptojanin-1, polyphosphoinositide phosphatase E
GCFC 21q22.1 human GC-rich sequence DNA-binding factor candidate- open reading frame 66 T
C21orf49 21q22.1 spliced EST T19019 U
PRED36 21q22.1 exon prediction only U
PRKCBP2 21q22.1 human protein kinase C-binding protein RACK17 F
C21orf54 21q22.1 spliced EST AA934973 U
IFNAR2 21q22.1 human interferon alpha/beta receptor F
IL10RB 21q22.1 human transmembrane receptor protein; cytokine receptor F
IFNAR1 21q22.1 human interferon alpha receptor (HiIFN-alphapRec) F
IFNGR2 21q22.1 interferon-gamma receptor beta chain precursor F
C21orf4 21q22.1 chromosome 21 open reading frame 4 (interferon receptor cluster) F
RPS5L 21q22.1 human ribosomal protein S5 mRNA, complete cds T
C21orf55 21q22.11 spliced ESTs AA233864/AA232809 U
GART 21q22.1 EC 2.1.2.2 phosphoribosylglycinamide formyltransferase E Y
C21orf50 21q22.1 spliced EST AA658915 U
SON 21q22.1 SON DNA-binding protein, KIAA1019 T
CRYZL1 21q21.1 human quinone oxidoreductase homolog-1 E
ITSN1 21q22.1 Intersectin 1 (SH3 domain protein-1A) F
ATP50 21q22.1 human ATP synthase OSCP subunit, oligomycin sensitivity conferring protein E
SLC5A3 21q22 human solute carrier family 5, member 3, sodium/myo-inositol cotransporter F
PRED37 21q22.1 exon prediction only U
KCNE2 21q22.1 human minK-related peptide 1, potassium channel subunit, MiRP1 F
C21orf51 21q22.1 spliced EST AA306264 U
PRED38 21q22.1 exon prediction only U
KCNE1 21q22.1 Potassium voltage-gated channel, Isk-related subfamily, member 1 (cardiac) F
DSCR1 21q22.1 Myocyte-enriched calcineurin-interacting protein 1 U
PRED39 21q22.1 exon prediction only U
CLIC1L 21q22.1 putative gene, p64 chloride channel like, spliced ESTs T92523/T91760 F
C21orf52 21q22.1 spliced EST AI761253 U
RUNX1 21q22.3 acute myeloid leukemia 1 protein (oncogene AML-1), core binding factor, alpha subunit T
RPL34P3 21q22.1 pseudogene with similarity to ribosomal protein L34 P
RPS20P 21q22.1 pseudogene with similarity to ribosomal protein S20 P
PPP1R2P2 21q22.1 protein phosphatase inhibitor 2 pseudogene P
PRED40 21q22.1 exon prediction only U
RPL23AP3 21q22.1 ribosomal protein L23A pseudogene P
C21orf18 21q22.1 spliced EST AK001660 U
RIMKLP 21q22.1 pseudogene for KIAA1238 protein, similar to bacterial ribosomal S6 modification protein P
C21orf27 21q22.1 spliced EST AI685287 U
CBR1 21q22.1 EC 1.1.1.184 carbonyl reductase (NADPH) 1, EC1.1.1.184 E Y
C21orf19 21q22.1 unspliced ORF U
RPS9P 21q22.1 ribosomal protein S9 pseudogene P
CBR3 21q22.2 carbonyl reductase (NADPH) 3, EC1.1.1.184 E
C21orf5 21q22.2 chromosome 21 open reading frame 5 U
RPL3P 21q22.1 ribosomal protein L3 pseudogene P
SFRS9P1 21q22.1 splicing factor pseudogene P
RPS26P 21q22.1 ribosomal protein S26 pseudogene P
KIAA0136 21q22.1 human mRNA for KIAA0136 protein U
CHAF1B 21q22.2 human chromatin assembly factor -I p60 subunit T
ATP5J2LP 21q22.1 F1Fo-ATPase synthase f subunit pseudogene P
CLDN14 21q22.3 human CLDN14 gene (autosomal recessive deafness) U
PSMD4P 21q22.1 proteasome 26S subunit pseudogene P
PRED41 n/a exon prediction only U
SIM2 21q22.2 human transcription factor SIM2, homolog of the Drosophila single-minded gene SIM1 T
HLCS 21q21.1 EC 6.3.4 holocarboxylase synthetase, EC6.3.4 E
DSCR5 21q22.1 human Down syndrome critical region protein C U
TTC3 21q22.2 tetratricopeptide repeat protein 3 (TPR repeat protein D) U
DSCR3 21q22.3 Down syndrome critical region protein A U
DYRK1A 21q22.1 EC 2.7.1 dual-specificity tyrosine-Y-phosphorylation regulated kinase, EC 2.7.1 E
KCNJ6 21q22.1 human G protein coupled inward rectifier potassium channel 2 (hiGIRK2) F
DSCR4 21q22.2 Down syndrome critical region protein B U
KCNJ15 21q22.2 inwardly rectifying potassium channel Kir4.2 F
ERG 21q22.3 transcriptional regulator ERG (transforming protein ERG) T
C21orf24 21q22.2 spliced EST AI492145 U
ETS2 21q22.3 human erythroblastosis virus oncogene homolog 2 T
RPL23AP5 21q22.2 60S ribosomal protein pseudogene P
PCBP2P1 21q22.3 heteronucleotide robosomal protein pseudogene P
DSCR2 21q22.3 leucine rich protein C21-LRP U
N143 21q22.3 human mRNA; transcriptional unit N143 T
WDR9 21q22.3 gene homolog to cAMP response element binding and beta-tranducin family F
HMG14 21q22.3 human non-histone chromosomal protein HMG-14 T
WRB 21q22.3 tryptophan-rich protein, congenital heart disease 5 protein S
C21orf13 21q22.3 hypothetical 76.5 kD protein, O95447, myosin heavy chain and kinesin homology T
SH3GBR 21q22.3 21-glutamic acid-rich Protein (21-GARP) U
B3GALT5 21q22.3 GlcNAc-beta-1,3 galactosyltransferase 5 E
IGSF5 21q22.3 putative gene, immunoglobulin superfamily 5 like F
PCP4 21q22.3 brain-specific polypeptide PEP19 S
DSCAM 21q22.2 human CHD2-52 down syndrome cell adhesion molecule S
PRED42 21q22.3 exon prediction only U
BACE2 21q22.3 EC 3.4.23 beta-site APP cleaving enzyme 2, EC3.4.23 E
PRED43 21q22.3 exon prediction only U
PRED44 21q22.3 putative gene containing transmembrane domain S
C21orf11 21q22.3 gene similar to 2-19 protein U
MX2 21q22.3 human interferon-regulated resistance GTP-binding protein MXB F
MX1 21q22.3 human interferon-regulated resistance GTP-binding protein MXA F
TMPRSS2 21q22.3 EC 3.4.21 transmembrane protease, serine 2 EC 3.4.21 E
C21orf20 21q22.3 spliced EST AW128631 U
C21orf21 21q22.3 spliced EST AA969880 U
C21orf22 21q22.3 spliced EST AA4359939 U
ANKRD3 21q22.3 Ankyrin repeat domain 3- protein kinase E
ZNF298 21q22.3 putative gene containing C2 domain, spliced EST AA490433 U
C21orf25 21q22.3 human cDNA DKFZp586F0422 AL050173 U
ZNF295 21q22.3 gene similar to zinc finger 5 protein T
UMODL1 n/a gene similar to uromodulin F
PRED46 21q22.3 exon prediction only U
ABCG1 21q22.3 white protein homolog (ATP-binding cassette transporter 8) F
TFF3 21q22.3 trefoil factor 3, HITF, human intestinal trefoil factor S
TFF2 21q22.3 trefoil factor 2, SML1, human spasmolytic polypeptide S
TFF1 21q22.3 trefoil factor 1, BCE1, human pS2 induced by estrogen from human breast cancer cell line M S
TMPRSS3 21q22.3 gene similar to transmembrane serine protease E
UBASH3A 21q22.3 gene similar to UBA containing SH3 domain F
TSGA2 21q22.3 human homolog to mouse testis specific gene 2 F
SLC37A1 21q22.3 gene similar to glycerol-3-phosphate permease E
PDE9A 21q22.3 EC 3.1.4.17 CGMP-specific 3',5'-cyclic phosphodiesterase type 9, EC 3.1.4.17 E NE?
WDR4 21q22.3 WD repeat domain 4 U
NDUFV3 21q22.3 NADH-ubiquinone oxidoreductase 9 kD subunit precursor, EC 1.6.5.3 E
PKNOX1 21q22.3 human homeobox-containing protein U
CBS 21q22.3 EC 4.2.1.22 human cystathionine-beta-synthase, EC 4.2.1.22 E Y
U2AF1 21q22.3 human U2 snRNP auxiliary factor small subunit F
CRYAA 21q22.3 human alphaA-crystallin (CRYA1) S
HSF2BP 21q22.3 heat shock transcription factor 2 binding protein F
PRED47 21q22.3 exon prediction only U
PRED48 21q22.3 exon prediction only U
SNF1LK 21q22.3 gene similar to rat protein kinase (KID2) E
PRED49 21q22.3 exon prediction only U
PRED50 21q22.3 exon prediction only U
PRED51 21q22.3 exon prediction only U
RPL31P 21q22.3 ribosomal protein L31 pseudogene P
H2BFS 21q22.3 H2B histone family S member T
KIAA0179 21q22.3 human mRNA for KIAA0199 protein U
PDXK 21q22.3 EC 2.7.1.35 human pyridoxal kinase, EC 2.7.1.35 E Y
CSTB 21q22.3 cystatin B (liver thiol proteinase inhibitor) F
D21S2056E 21q22.3 human NNP-1/Nop52 (NNP-1) novel nuclear protein 1 T
PRED52 21q22.3 exon prediction only U
MYL6P 21q22.3 myosine alkali light chain 6 pseudogene P
AGPAT3 21q22.3 gene similar to plant lysophosphatidic acid acyltransferase E
HPE1 21q22.3 Holoprosencephaly-1, alobar S
H2AFZP 21q22.3 histone H2AZ pseudogene P
PWP2H 21q22.3 periodic tryptophan protein 2 homolog F
ES1 21q22.3 human HES1 protein, homolog to E. coli and zebrafish ES1 protein U
C21orf32 21q22.3 putative gene with similarities to yeast gene YDL038c U
KIAA0635 n/a human mRNA for KIAA0635 protein U
DNMT3L 21q22.3 human cytosine-5-methyltransferase 3-like protein E
AIRE 21q22.3 autoimmune regulator (APECED protein) F
PFKL 21q22.3 EC 2.7.1.11 human liver-type 1-phosphofructokinase, EC2.7.1.11 E Y
C21orf2 21q22.3 nuclear encoded mitochondrial protein, cDNA A2-YF5 F
TRPC7 21q22.3 transient receptor potential-related channel 7, a novel putative Ca2+ channel protein F
C21orf30 21q22.3 intronless long ORF, AL117578 U
C21orf29 21q22.3 spliced partial mRNA U
C21orf31 21q22.3 spliced EST AJ003549/AJ003550/AJ003554 U
PRED53 21q22.3 exon prediction only U
KAPcluster n/a keratin associated proteins, gene cluster S
IMMTP 21q22.3 motorprotein pseudogene P
UBE2G2 21q22.3 human ubiquitin conjugating enzyme G2 E
SMT3H1 21q22.3 ubiquitin-like protein, a human homolog of the S. cerevisiae SMT3 gene T
PTTG1IP 21q22.3 Pituitary tumor-transforming gene 1 protein-interacting protein F
ITGB2 21q22.3 cell curface adhesion glycoprotein (LFA-1/CR3/P150,959 beta subunit precursor) S
PRED54 21q22.3 exon prediction only U
PRED55 21q22.3 exon prediction only U
PRED56 21q22.3 exon prediction only U
ADARB1 21q22.3 EC 3.5 human dsRNA adenosine deaminase DRADA2b, EC 3.5 E
PRED57 21q22.3 exon prediction only U
PRED58 21q22.3 exon prediction only U
KIAA0958 21q22.3 human mRNA for KIAA0958 protein- open reading frame 80 U
PRED59 21q22.3 exon prediction only U
COL18A1 21q22.3 human type XVIII collagen S
SLC19A1 21q22.3 human reduced folate carrier (RFC) F
PRED60 21q22.3 exon prediction only U
PRED61 21q22.3 exon prediction only U
PCBP3 21q22.3 poly (rC)-binding protein 3 F
PRED62 21q22.3 putative gene containing transmembrane domain F
COL6A1 21q22.3 human mRNA for collagen VI alpha-1 C-terminal globular domain S
PRED63 21q22.3 exon prediction only U
COL6A2 21q22.3 human mRNA for collagen VI alpha-2 C-terminal globular domain S
FTCD 21q22.3 EC 4.3.1.4 human formiminotransferase cyclodeaminase, EC4.3.1.4 E NE
C21orf56 21q22.3 spliced EST AA262598 U
LSS 21q22.3 EC 5.4.99.7 human lanosterol synthase EC5.4.99.7 E NE
MCM3 21q22.3 human mRNA for MCM3 import factor U
C21orf57 21q22.3 spliced EST AI702440 U
C21orf58 21q22.3 spliced ESTs Z25278/AA825266 U
PCTN2 21q22.3 pericentrin, kendrin (KIAA0402) T
KIAA0184 21q22.3 human mRNA for KIAA0184 protein U
S100B 21q22.2 S-100 calcium-binding protein, beta chain F
HRMT1L1 21q22.3 EC2.1.1 protein arginine N-methyltransferase 2, EC2.1.1. E
RPL23AP4 21q22.3 ribosomal protein L23A pseudogene P
Total enzymes 40
Total Structural proteins 21
Total Functional Proteins 39
Total Transcriptional/Translational/Replication/Regulatory Factors 26
Total Pseudogenes 57
Total Unknown 102
285

Gene	Location	Enzyme	Enzyme Name	Category	Over- expressed
TPTE	21p11	EC 3.1.3.48	Tensin; putative protein-tyrosine phosphatase, EC 3.1.3.48	E	NE
CYC1LP4	21p11		Cytochrome c pseudogene	P
Pseudo1	21p11		Zinc Finger Protein pseudogene	P
PRED1	21p11	EC2.7.1	putative gene, protein kinase E ETA type (EC 2.7.1.) like	E
ORLP1	21p11.2		Pheromone receptor pseudogene	P
Pseudo1.1	21p11		pseudogene similar to cDNA DKFZp586E1423	P
Pseudo2	21p11		tubulin tyrosine ligase-like 1 pseudogene	P
EIF3S5P	21p11		eukaryotic initiation factor-3, subunit 5 pseudogene	P
PRED65	21q11.1		putative gene with similarity to zinc finger proteins	T
PRED3	21q11.1		putative gene, proto-oncogene protein precursor like	T
PRED4	21q11.1		putative gene with similarities to KIAA1074 and KIAA0565	U
ORLP2	21q11.1		Pheromone receptor pseudogene	P
CNN2	21q11.1		calponin 2	S
C21orf15	21q11		spliced EST AJ003450	U
CYP4F3LP	21q11		Cytochrome P450 pseudogene	P
NF1L1P	21q11.1		neurofibromatosis type 1 pseudogene	P
PRED5	21q11.2		putative gene, lipase EC 3.1.1.3 like	E
RBM11	21q11.2		putative gene, RNA binding motif protein 11 like	T
PRED6	21q11.2		putative gene, multidrug resistance associated protein like	F
STCH	21q11.1		human microsomal stress 70 protein ATPase core	F
SAMSN-1	21q11.2		gene with homology to KIAA0790 protein	U
POLR2CP	21q11.2		pseudogene similar to RNA polymerase H subunits	P
NRIP1	21q11.1		nuclear factor RIP140	T
CYC1LP5	21q11.2		Cytochrome c pseudogene	P
RAD23BLP	21q11.2		UV excision repair protein pseudogene	P
USP25	21q11.2		ubiquitin specific protease USP25	E
RBPMSLP	21q11.2		RNA-binding protein hermes pseudogene	P
C21orf34	21q21.1		spliced EST AA451643	U
VDAC2P	21q21.1		voltage-dependent anion channel isoform 2 pseudogene	P
C21orf35	21q21.1		spliced EST AW242517	U
C21orf36	21q21.1		spliced EST AA017197	U
C21orf37	21q21.1		spliced EST N47348	U
CXADR	21q21.1		46 kD coxsackievirus and adenovirus receptor (CAR) protein	F
BTG3	21q21.1		B-cell translocation gene	U
YG81	21q21.1		gene of unknown function, spliced variant EST AI126619	U
C21orf39	21q21.1		spliced EST T74237	U
RL37P	21q21.1		human ribosomal protein L37 pseudogene	P
PRED12	21q21.1		putative gene, membrane protein like	S
PRSS7	21q21.1	EC 3.4.21.9	human enterokinase	E	NE
SLC6A6P	21q21.1		taurine transporter processed pseudogene	P
RL37P2	21q21.1		human ribosomal protein L37 pseudogene	P
C1QBPP	21q21.1		human splicing factor 2 hyaluronic acid-binding protein (SF2p32) pseudogene	P
C21orf40	21q21.1		spliced EST AA412132	U
FDPSP	21q21.1		faresyl pyrophosphate synthetase processed pseudogene	P
KRT18P2	21q21.1		cytokeratin 18 processed pseudogene	P
RPS3AP	21q21.1		ribosomal protein S3 processed pseudogene	P
PRED14	21q21.1		human cDNA clone 280692	U
PPIAP	21q21.1		cyclophilin-related processed pseudogene	P
NCAM2	21q21		neural cell adhesion molecule 2 precursor	F
PRED15	21q21.2		exon prediction only	U
PRED16	21q21.2		spiced EST AI188136	U
Pseudo3	21q21.2		ETS-like processed pseudogene	P
Pseudo4	21q21.2		ERK3 protein kinase pseudogene	P
ZNF299P	21q21.2		zinc finger-like processed pseudogene	P
EEF1A1P	21q21.2		human elongation factor EF-1-alpha processed pseudogene	P
TUBAP	21q21.2		alpha tubulin (TUBA2) processed pseudogene	P
C21orf53	21q21.2		spliced EST W73844	U
RPL13AP	21q21.2		ribosomal protein RPL 13A pseudogene	P
C21orf42	21q21.2		spliced EST AA442272	U
PRED21	21q21.2		spliced EST AI016585	U
MRPL39	21q21.3		Mitochondrial Ribosomal Protein L39 (MRPL39)	T
PRED22	21q21.2		complete cDNA FLJ20451	U
JAM2	21q21.2		junctional adhesion molecule	S
FDXP2	21q21.2		adrenodoxin pseudogene	P
ATP5A	21q21.2		human mitochondrial ATPase coupling factor 6 subunit	E
GABPA	21q21.2		human nuclear respiratory factor-2 subunit alpha	T
APP	21q21.2		human mRNA for amyloid A4 precursor of Alzheimer's disease	S
PRED24	21q21.2		gene similar to MARCKS, cDNA DKFZp564P1664	U
ADAMTS1	21q21.2		human metallopoteinase with thrombospondin type 1 motifs	E
ADAMTS5	21q21.2		disintegrin-like and metalloprotease with thrombospondin type 1 motif, 5	E
GPXP2	21q21.2		human glutathione peroxidase (GPXP2) pseudogene	P
PRED25	21q21.2		exon prediction only	U
EIF4A1P	21q21.2		eukaryotic initiation factor 4AI pseudogene	P
RPL10P	21q21.2		60S ribosomal protein L 10 pseudogene	P
PRED26	21q21.2		exon prediction only	U
D21S2073	21q21.2		KIAA0253 pseudogene	P
C21orf23	21q21.2		spliced EST AI796012	U
PRED27	21q22.1		exon prediction only	U
N6AMT1	21q21.2		putative N6-DNA-methyltransferase	E
HSPDP7	21q21.3		human chaperonin pseudogene	P
ZNF294	21q22.1		zinc finger protein	T
RPL23P2	21q22.11		60S ribosomal protein L 23 pseudogene	P
C21orf6	21q22.11		chromosome 21 open reading frame 6	U
USP16	21q22.11	EC 3.1.2.15	human ubiquitin processing protease EC 3.1.2.15	E	Y
CCT8	21q22.11		T-complex protein 1, theta subunit	S
C21orf7	21q22.3		putative gene, TGF-beta activated kinase like	E
GAPDP14	21q22.1		glycerinaldehyde-3-phosphate dehydrogenase pseudogene	P
BACH1	21q22.1		transcription regulator protein	T
C21orf12	21q22.1		spliced EST R82144 (trapped exon)	U
C21orf8	21q22.1		spliced EST AA843704	U
GRIK1	21q22		human glutamate receptor (GLUR5)	F
C21orf41	21q22.11		spliced EST N45393	U
C21orf9	21q22.1		spliced EST W58369, nuclear factor	T
CLDN17	21q22.11		human CLDN17 gene for claudin-17	S
CLDN8	21q22.1		human CLDN8 gene for claudin-8	S
PRED29	21q22.1		exon prediction only	U
PRED30	21q22.1		exon prediction only	U
UBE3AP2	21q22.1		ubiquitin protein ligase, processed pseudogene	P
TIAM1	21q22.1		human T-lymphoma invasion and metastasis inducing TIAM1 protein	T
PRED31	21q22.1		exon prediction only	U
BTRC2P	21q22.1		pseudogene similar to BTRC	P
SOD1	21q22.1	EC 1.15.1.1	Cu/Zn Superoxide Dismutase	E	Y
CTBP2	21q21.3		C-terminal binding protein 2	F
HMG14P	21q22.11		nonhistone chromosomal protein HMG-14 pseudogene	P
HUNK	21q22		Hormonally upregulated NEU-associated kinase	E
C21orf44	21q22.1		spliced EST AW138869	U
C21orf45	21q22.11		spliced EST AI369385	U
KIAA0539	21q22.1		human mRNA for KIAAA0539 protein- open reading frame 108	U
PRED34	21q22.1		putative gene, similar to C. elegans P91865, spliced EST H51862- open reading frame 63	U
C21orf47	21q21.1		spliced EST H51284	U
TCP10L	21q21.1		gene similar to TCP10, spliced ESTs AA465232/T18865	U
SYNJ1	21q22.2		synaptojanin-1, polyphosphoinositide phosphatase	E
GCFC	21q22.1		human GC-rich sequence DNA-binding factor candidate- open reading frame 66	T
C21orf49	21q22.1		spliced EST T19019	U
PRED36	21q22.1		exon prediction only	U
PRKCBP2	21q22.1		human protein kinase C-binding protein RACK17	F
C21orf54	21q22.1		spliced EST AA934973	U
IFNAR2	21q22.1		human interferon alpha/beta receptor	F
IL10RB	21q22.1		human transmembrane receptor protein; cytokine receptor	F
IFNAR1	21q22.1		human interferon alpha receptor (HiIFN-alphapRec)	F
IFNGR2	21q22.1		interferon-gamma receptor beta chain precursor	F
C21orf4	21q22.1		chromosome 21 open reading frame 4 (interferon receptor cluster)	F
RPS5L	21q22.1		human ribosomal protein S5 mRNA, complete cds	T
C21orf55	21q22.11		spliced ESTs AA233864/AA232809	U
GART	21q22.1	EC 2.1.2.2	phosphoribosylglycinamide formyltransferase	E	Y
C21orf50	21q22.1		spliced EST AA658915	U
SON	21q22.1		SON DNA-binding protein, KIAA1019	T
CRYZL1	21q21.1		human quinone oxidoreductase homolog-1	E
ITSN1	21q22.1		Intersectin 1 (SH3 domain protein-1A)	F
ATP50	21q22.1		human ATP synthase OSCP subunit, oligomycin sensitivity conferring protein	E
SLC5A3	21q22		human solute carrier family 5, member 3, sodium/myo-inositol cotransporter	F
PRED37	21q22.1		exon prediction only	U
KCNE2	21q22.1		human minK-related peptide 1, potassium channel subunit, MiRP1	F
C21orf51	21q22.1		spliced EST AA306264	U
PRED38	21q22.1		exon prediction only	U
KCNE1	21q22.1		Potassium voltage-gated channel, Isk-related subfamily, member 1 (cardiac)	F
DSCR1	21q22.1		Myocyte-enriched calcineurin-interacting protein 1	U
PRED39	21q22.1		exon prediction only	U
CLIC1L	21q22.1		putative gene, p64 chloride channel like, spliced ESTs T92523/T91760	F
C21orf52	21q22.1		spliced EST AI761253	U
RUNX1	21q22.3		acute myeloid leukemia 1 protein (oncogene AML-1), core binding factor, alpha subunit	T
RPL34P3	21q22.1		pseudogene with similarity to ribosomal protein L34	P
RPS20P	21q22.1		pseudogene with similarity to ribosomal protein S20	P
PPP1R2P2	21q22.1		protein phosphatase inhibitor 2 pseudogene	P
PRED40	21q22.1		exon prediction only	U
RPL23AP3	21q22.1		ribosomal protein L23A pseudogene	P
C21orf18	21q22.1		spliced EST AK001660	U
RIMKLP	21q22.1		pseudogene for KIAA1238 protein, similar to bacterial ribosomal S6 modification protein	P
C21orf27	21q22.1		spliced EST AI685287	U
CBR1	21q22.1	EC 1.1.1.184	carbonyl reductase (NADPH) 1, EC1.1.1.184	E	Y
C21orf19	21q22.1		unspliced ORF	U
RPS9P	21q22.1		ribosomal protein S9 pseudogene	P
CBR3	21q22.2		carbonyl reductase (NADPH) 3, EC1.1.1.184	E
C21orf5	21q22.2		chromosome 21 open reading frame 5	U
RPL3P	21q22.1		ribosomal protein L3 pseudogene	P
SFRS9P1	21q22.1		splicing factor pseudogene	P
RPS26P	21q22.1		ribosomal protein S26 pseudogene	P
KIAA0136	21q22.1		human mRNA for KIAA0136 protein	U
CHAF1B	21q22.2		human chromatin assembly factor -I p60 subunit	T
ATP5J2LP	21q22.1		F1Fo-ATPase synthase f subunit pseudogene	P
CLDN14	21q22.3		human CLDN14 gene (autosomal recessive deafness)	U
PSMD4P	21q22.1		proteasome 26S subunit pseudogene	P
PRED41	n/a		exon prediction only	U
SIM2	21q22.2		human transcription factor SIM2, homolog of the Drosophila single-minded gene SIM1	T
HLCS	21q21.1	EC 6.3.4	holocarboxylase synthetase, EC6.3.4	E
DSCR5	21q22.1		human Down syndrome critical region protein C	U
TTC3	21q22.2		tetratricopeptide repeat protein 3 (TPR repeat protein D)	U
DSCR3	21q22.3		Down syndrome critical region protein A	U
DYRK1A	21q22.1	EC 2.7.1	dual-specificity tyrosine-Y-phosphorylation regulated kinase, EC 2.7.1	E
KCNJ6	21q22.1		human G protein coupled inward rectifier potassium channel 2 (hiGIRK2)	F
DSCR4	21q22.2		Down syndrome critical region protein B	U
KCNJ15	21q22.2		inwardly rectifying potassium channel Kir4.2	F
ERG	21q22.3		transcriptional regulator ERG (transforming protein ERG)	T
C21orf24	21q22.2		spliced EST AI492145	U
ETS2	21q22.3		human erythroblastosis virus oncogene homolog 2	T
RPL23AP5	21q22.2		60S ribosomal protein pseudogene	P
PCBP2P1	21q22.3		heteronucleotide robosomal protein pseudogene	P
DSCR2	21q22.3		leucine rich protein C21-LRP	U
N143	21q22.3		human mRNA; transcriptional unit N143	T
WDR9	21q22.3		gene homolog to cAMP response element binding and beta-tranducin family	F
HMG14	21q22.3		human non-histone chromosomal protein HMG-14	T
WRB	21q22.3		tryptophan-rich protein, congenital heart disease 5 protein	S
C21orf13	21q22.3		hypothetical 76.5 kD protein, O95447, myosin heavy chain and kinesin homology	T
SH3GBR	21q22.3		21-glutamic acid-rich Protein (21-GARP)	U
B3GALT5	21q22.3		GlcNAc-beta-1,3 galactosyltransferase 5	E
IGSF5	21q22.3		putative gene, immunoglobulin superfamily 5 like	F
PCP4	21q22.3		brain-specific polypeptide PEP19	S
DSCAM	21q22.2		human CHD2-52 down syndrome cell adhesion molecule	S
PRED42	21q22.3		exon prediction only	U
BACE2	21q22.3	EC 3.4.23	beta-site APP cleaving enzyme 2, EC3.4.23	E
PRED43	21q22.3		exon prediction only	U
PRED44	21q22.3		putative gene containing transmembrane domain	S
C21orf11	21q22.3		gene similar to 2-19 protein	U
MX2	21q22.3		human interferon-regulated resistance GTP-binding protein MXB	F
MX1	21q22.3		human interferon-regulated resistance GTP-binding protein MXA	F
TMPRSS2	21q22.3	EC 3.4.21	transmembrane protease, serine 2 EC 3.4.21	E
C21orf20	21q22.3		spliced EST AW128631	U
C21orf21	21q22.3		spliced EST AA969880	U
C21orf22	21q22.3		spliced EST AA4359939	U
ANKRD3	21q22.3		Ankyrin repeat domain 3- protein kinase	E
ZNF298	21q22.3		putative gene containing C2 domain, spliced EST AA490433	U
C21orf25	21q22.3		human cDNA DKFZp586F0422 AL050173	U
ZNF295	21q22.3		gene similar to zinc finger 5 protein	T
UMODL1	n/a		gene similar to uromodulin	F
PRED46	21q22.3		exon prediction only	U
ABCG1	21q22.3		white protein homolog (ATP-binding cassette transporter 8)	F
TFF3	21q22.3		trefoil factor 3, HITF, human intestinal trefoil factor	S
TFF2	21q22.3		trefoil factor 2, SML1, human spasmolytic polypeptide	S
TFF1	21q22.3		trefoil factor 1, BCE1, human pS2 induced by estrogen from human breast cancer cell line M	S
TMPRSS3	21q22.3		gene similar to transmembrane serine protease	E
UBASH3A	21q22.3		gene similar to UBA containing SH3 domain	F
TSGA2	21q22.3		human homolog to mouse testis specific gene 2	F
SLC37A1	21q22.3		gene similar to glycerol-3-phosphate permease	E
PDE9A	21q22.3	EC 3.1.4.17	CGMP-specific 3',5'-cyclic phosphodiesterase type 9, EC 3.1.4.17	E	NE?
WDR4	21q22.3		WD repeat domain 4	U
NDUFV3	21q22.3		NADH-ubiquinone oxidoreductase 9 kD subunit precursor, EC 1.6.5.3	E
PKNOX1	21q22.3		human homeobox-containing protein	U
CBS	21q22.3	EC 4.2.1.22	human cystathionine-beta-synthase, EC 4.2.1.22	E	Y
U2AF1	21q22.3		human U2 snRNP auxiliary factor small subunit	F
CRYAA	21q22.3		human alphaA-crystallin (CRYA1)	S
HSF2BP	21q22.3		heat shock transcription factor 2 binding protein	F
PRED47	21q22.3		exon prediction only	U
PRED48	21q22.3		exon prediction only	U
SNF1LK	21q22.3		gene similar to rat protein kinase (KID2)	E
PRED49	21q22.3		exon prediction only	U
PRED50	21q22.3		exon prediction only	U
PRED51	21q22.3		exon prediction only	U
RPL31P	21q22.3		ribosomal protein L31 pseudogene	P
H2BFS	21q22.3		H2B histone family S member	T
KIAA0179	21q22.3		human mRNA for KIAA0199 protein	U
PDXK	21q22.3	EC 2.7.1.35	human pyridoxal kinase, EC 2.7.1.35	E	Y
CSTB	21q22.3		cystatin B (liver thiol proteinase inhibitor)	F
D21S2056E	21q22.3		human NNP-1/Nop52 (NNP-1) novel nuclear protein 1	T
PRED52	21q22.3		exon prediction only	U
MYL6P	21q22.3		myosine alkali light chain 6 pseudogene	P
AGPAT3	21q22.3		gene similar to plant lysophosphatidic acid acyltransferase	E
HPE1	21q22.3		Holoprosencephaly-1, alobar	S
H2AFZP	21q22.3		histone H2AZ pseudogene	P
PWP2H	21q22.3		periodic tryptophan protein 2 homolog	F
ES1	21q22.3		human HES1 protein, homolog to E. coli and zebrafish ES1 protein	U
C21orf32	21q22.3		putative gene with similarities to yeast gene YDL038c	U
KIAA0635	n/a		human mRNA for KIAA0635 protein	U
DNMT3L	21q22.3		human cytosine-5-methyltransferase 3-like protein	E
AIRE	21q22.3		autoimmune regulator (APECED protein)	F
PFKL	21q22.3	EC 2.7.1.11	human liver-type 1-phosphofructokinase, EC2.7.1.11	E	Y
C21orf2	21q22.3		nuclear encoded mitochondrial protein, cDNA A2-YF5	F
TRPC7	21q22.3		transient receptor potential-related channel 7, a novel putative Ca2+ channel protein	F
C21orf30	21q22.3		intronless long ORF, AL117578	U
C21orf29	21q22.3		spliced partial mRNA	U
C21orf31	21q22.3		spliced EST AJ003549/AJ003550/AJ003554	U
PRED53	21q22.3		exon prediction only	U
KAPcluster	n/a		keratin associated proteins, gene cluster	S
IMMTP	21q22.3		motorprotein pseudogene	P
UBE2G2	21q22.3		human ubiquitin conjugating enzyme G2	E
SMT3H1	21q22.3		ubiquitin-like protein, a human homolog of the S. cerevisiae SMT3 gene	T
PTTG1IP	21q22.3		Pituitary tumor-transforming gene 1 protein-interacting protein	F
ITGB2	21q22.3		cell curface adhesion glycoprotein (LFA-1/CR3/P150,959 beta subunit precursor)	S
PRED54	21q22.3		exon prediction only	U
PRED55	21q22.3		exon prediction only	U
PRED56	21q22.3		exon prediction only	U
ADARB1	21q22.3	EC 3.5	human dsRNA adenosine deaminase DRADA2b, EC 3.5	E
PRED57	21q22.3		exon prediction only	U
PRED58	21q22.3		exon prediction only	U
KIAA0958	21q22.3		human mRNA for KIAA0958 protein- open reading frame 80	U
PRED59	21q22.3		exon prediction only	U
COL18A1	21q22.3		human type XVIII collagen	S
SLC19A1	21q22.3		human reduced folate carrier (RFC)	F
PRED60	21q22.3		exon prediction only	U
PRED61	21q22.3		exon prediction only	U
PCBP3	21q22.3		poly (rC)-binding protein 3	F
PRED62	21q22.3		putative gene containing transmembrane domain	F
COL6A1	21q22.3		human mRNA for collagen VI alpha-1 C-terminal globular domain	S
PRED63	21q22.3		exon prediction only	U
COL6A2	21q22.3		human mRNA for collagen VI alpha-2 C-terminal globular domain	S
FTCD	21q22.3	EC 4.3.1.4	human formiminotransferase cyclodeaminase, EC4.3.1.4	E	NE
C21orf56	21q22.3		spliced EST AA262598	U
LSS	21q22.3	EC 5.4.99.7	human lanosterol synthase EC5.4.99.7	E	NE
MCM3	21q22.3		human mRNA for MCM3 import factor	U
C21orf57	21q22.3		spliced EST AI702440	U
C21orf58	21q22.3		spliced ESTs Z25278/AA825266	U
PCTN2	21q22.3		pericentrin, kendrin (KIAA0402)	T
KIAA0184	21q22.3		human mRNA for KIAA0184 protein	U
S100B	21q22.2		S-100 calcium-binding protein, beta chain	F
HRMT1L1	21q22.3	EC2.1.1	protein arginine N-methyltransferase 2, EC2.1.1.	E
RPL23AP4	21q22.3		ribosomal protein L23A pseudogene	P
			Total enzymes	40
			Total Structural proteins	21
			Total Functional Proteins	39
			Total Transcriptional/Translational/Replication/Regulatory Factors	26
			Total Pseudogenes	57
			Total Unknown	102
				285

Bibliography:

Bray, I., Wright, D., Davies, C. & Hook, E. Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets. Prenat Diagn 18, 9-20 (1998).

Lejeune, J. Pathogenesis of Mental Deficiency in Trisomy 21. American Journal of Medical Genetics Supplement 7, 20-30 (1990).

Block, M. Motor Development in Children with Down Syndrome: A Review of the Literature. Adapted Physical Activity Quarterly 8, 179-209 (1991).

Kumin, L. Speech and Language Skills in Children with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews 2, 109-116 (1996).

Nespoli, L., Burgio, G.R., Ugazio, A.G. & Maccario, R. Immunological features of Down's syndrome: a review. J. Intellect. Disabil. Res. 37 (Pt 6), 543-551 (1993).

Levo, Y. & Green, P. Down's syndrome and autoimmunity. Am. J. Med. Sci. 273, 95-99 (1977).

Raji, N.S. & Rao, K.S. Trisomy 21 and accelerated aging: DNA-repair parameters in peripheral lymphocytes of Down's syndrome patients. Mech. Ageing Dev. 100, 85-101 (1998).

Hasle, H., Clemmensen, I.H. & Mikkelsen, M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet 355, 165-169 (2000).

Hestnes, A. et al. Hormonal and biochemical disturbances in Down's syndrome. J. Ment. Defic. Res. 35 (Pt 3), 179-193 (1991).

Nagy, Z. Mechanisms of neuronal death in Down's syndrome. J. Neural Transm. Suppl 57, 233-245 (1999)

Godridge, H., Reynolds, G.P., Czudek, C., Calcutt, N.A. & Benton, M. Alzheimer-like neurotransmitter deficits in adult Down's syndrome brain tissue. J. Neurol. Neurosurg. Psychiatry 50, 775-778 (1987).

Petronis, A. Alzheimer's disease and Down syndrome: from meiosis to dementia. Exp. Neurol. 158, 403-413 (1999).

de Haan, J.B., Cristiano, F., Iannello, R.C. & Kola, I. Cu/Zn-superoxide dismutase and glutathione peroxidase during aging. Biochem Mol Biol Int. 1995 May;35(6):1281-97.

Iannello, R.C., Crack, P.J., de Haan, J.B. &, Kola, I. Oxidative stress and neural dysfunction in Down syndrome. J Neural Transm Suppl. 1999;57:257-67.

Busciglio, J., Yankner, B.A. Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature 1995 Dec 21-28;378(6559):776-9

Peeters, M.A., Rethore, M.O. & Lejeune, J. In vivo folic acid supplementation partially corrects in vitro methotrexate toxicity in patients with Down syndrome. Br. J. Haematol. 89, 678-680 (1995).

Hattori M., et. al. The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9.

OMIM- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

Medline- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi

ExPASy- http://us.expasy.org/enzyme/

Revised: January 6, 2003.