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Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 155 million base pairs (the building material of DNA) and represents between 4.5 and 5 % 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 8 likely contains between 700 and 1,000 genes.
Genes
The following are some of the genes located on chromosome 8:
- FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
- GDAP1: ganglioside-induced differentiation-associated protein 1
- LPL: lipoprotein lipase
- MCPH1: microcephaly, primary autosomal recessive 1
- NDRG1: N-myc downstream regulated gene 1
- NEF3: neurofilament 3 (150kDa medium)
- NEFL: neurofilament, light polypeptide 68kDa
- SNAI2: snail homolog 2 (Drosophila)
- TG: thyroglobulin
- TPA: tissue plasminogen activator
- VMAT1: vesicular monoamine transporter protein
- WRN: Werner syndrome
Diseases & disorders
The following diseases are some of those related to genes on chromosome 8:
- Burkitt's lymphoma
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 2
- Charcot-Marie-Tooth disease, type 4
- Congenital hypothyroidism
- Lipoprotein lipase deficiency, familial
- Primary microcephaly
- Hereditary Multiple Exostoses
- Pfeiffer syndrome
- Rothmund-Thomson syndrome, or poikiloderma congenitale
- Schizophrenia, associated with 8p21-22 locus[1][2][3]
- Waardenburg syndrome
- Werner syndrome
- Pingelapese blindness
References
- ^ Blouin JL, Dombroski BA, Nath SK, et al (September 1998). "Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21". Nat. Genet. 20 (1): 70–3. doi:. PMID 9731535.
- ^ Gurling HM, Kalsi G, Brynjolfson J, et al (March 2001). "Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23". Am. J. Hum. Genet. 68 (3): 661–73. doi:. PMID 11179014. PMC:1274479.
- ^ Suarez BK, Duan J, Sanders AR, et al (February 2006). "Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample". Am. J. Hum. Genet. 78 (2): 315–33. doi:. PMID 16400611. PMC:1380238.
- Gilbert F (2001). "Chromosome 8". Genet Test 5 (4): 345–54. doi:. PMID 11960583.
- Nusbaum C et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature 439 (7074): 331–5. doi:. PMID 16421571.
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Wikipedia content modification information:
- This page was last modified on 10 August 2008, at 23:09.
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