Chromosome 8 (human)



Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells.

The chromosome has two arms, 8p and 8q. The short arm, 8p, has about 45 million base pairs, about 1.5% of the genome, and includes 484 genes and 110 pseudogenes; about 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a big region of about 15 megabases that appears to have a high mutation rate, and which shows an immense divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain.

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 is likely to contain between 700 and 1,000 genes.

Genes
The following are some of the genes located on chromosome 8:
 * AEG1 : Astrocyte Elevated Gene (linked to hepatocellular carcinoma and neuroblastoma)
 * Arc/Arg3.1
 * 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
 * GULOP pseudogene: responsible for human inability to produce our own Vitamin C

Diseases & disorders
The following diseases are some of those related to genes on chromosome 8:
 * 8p23.1 duplication syndrome
 * Burkitt's lymphoma
 * Charcot-Marie-Tooth disease
 * Charcot-Marie-Tooth disease, type 2
 * Charcot-Marie-Tooth disease, type 4
 * Cleft lip and palate
 * Cohen syndrome
 * 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
 * Waardenburg syndrome
 * Werner syndrome
 * Pingelapese blindness
 * Langer-Giedion syndrome
 * Roberts Syndrome