Chromosome 17 (human)

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Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pairs (the building material of DNA) and represents between 2.5 and 3 % of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 17 likely contains between 1,200 and 1,500 genes. It also contains the Homeobox B gene cluster.

Genes

The following are some of the genes located on chromosome 17:

• ACADVL: acyl-coenzyme A dehydrogenase, very long chain
• ACTG1: actin, gamma 1
• ASPA: aspartoacylase (Canavan disease)
• BRCA1: breast cancer 1, early onset
• COL1A1: collagen, type I, alpha 1
• ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
• FLCN: folliculin
• GALK1: galactokinase 1
• GFAP: glial fibrillary acidic protein
• KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
• MYO15A: myosin XVA
• NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
• PMP22: peripheral myelin protein 22
• SHBG: Sex hormone binding globulin
• TP53: tumor protein p53 (Li-Fraumeni syndrome)
• USH1G: Usher syndrome 1G (autosomal recessive)
• RAI1: retinoic acid induced 1
• RARalpha: Retenoic Acid Receptor Alpha (involved in t(15,17) with PML)
• GRB7: Growth factor Receptor-Bound protein 7

serotonin

Ramamoorthy et al. (1993) mapped a single gene encoding the human 5-HT transporter to chromosome 17q11.1-q12.

Diseases

The following disorders of interest to psychologists are some of those related to genes on chromosome 17:

• Alexander disease
• Bladder cancer
• breast cancer
• Canavan disease
• Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, type 1
• Chromosome 17p13.3 deletion syndrome
• Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, arthrochalasia type
• Ehlers-Danlos syndrome, classical type
• Galactosemia
• Hereditary neuropathy with liability to pressure palsies
• Li-Fraumeni syndrome
• Maturity onset diabetes of the young type 5
• Neurofibromatosis type I
• Nonsyndromic deafness
• Nonsyndromic deafness, autosomal dominant
• Nonsyndromic deafness, autosomal recessive
• Osteogenesis imperfecta
• Osteogenesis imperfecta, type I
• Osteogenesis imperfecta, type II
• Osteogenesis imperfecta, type III
• Osteogenesis imperfecta, type IV
• Smith-Magenis syndrome
• Usher syndrome
• Usher syndrome type I
• Very long-chain acyl-coenzyme A dehydrogenase deficiency

References

• Gilbert F (1998). Disease genes and chromosomes: disease maps of the human genome. Chromosome 17. Genet Test 2 (4): 357-81. PMID 10464617.
• Gelernter, J.; Pakstis, A. J.; Kidd, K. K. (1995). Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17. Hum. Genet. 95: 677-680, 1995.PubMed ID : 7789954

Ramamoorthy, S.; Bauman, A. L.; Moore, K. R.; Han, H.; Yang-Feng, T.; Chang, A. S.; Ganapathy, V.; Blakely, R. D. : Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proc. Nat. Acad. Sci. 90: 2542-2546, 1993. PubMed ID : 7681602

Human chromosomes
{1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y}