Chromosome 6 (human)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the Major Histocompatibility Complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.

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 6 likely contains between 1,100 and 1,600 genes.

Genes

The following are some of the genes located on chromosome 6:

• BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
• COL11A2: collagen, type XI, alpha 2
• CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
• DSP: Desmoplakin gene linked to cardiomyopathy
• EYA4: eyes absent homolog 4 (Drosophila)
• HFE: hemochromatosis
• HLA-B: major histocompatibility complex, class I, B
• MUT: methylmalonyl Coenzyme A mutase
• MYO6: myosin VI
• PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
• PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
• TNXB: tenascin XB
• VEGF: vascular endothelial growth factor A (angiogenic growth factor)
• IGF2R: insulin-like growth factor 2 receptor

Diseases & disorders

The following diseases are some of those related to genes on chromosome 6:

• ankylosing spondylitis
• collagenopathy, types II and XI
• Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, classical type
• Ehlers-Danlos syndrome, hypermobility type
• Hemochromatosis
• hemochromatosis, type 1
• 21-hydroxylase deficiency
• maple syrup urine disease
• methylmalonic acidemia
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• nonsyndromic deafness, autosomal recessive
• otospondylomegaepiphyseal dysplasia
• Parkinson disease
• polycystic kidney disease
• porphyria
• porphyria cutanea tarda
• Stickler syndrome
• X-linked sideroblastic anemia

Chromosome 6 in Fiction

Further information: Chromosome 6 (novel)

Robin Cook's book, Chromosome 6, explores the possibility of transferring a little bit of human DNA onto very close relatives of the human, genetically wise, bonobos in this case, in order to create organs that would not be rejected by the human body. Chromosome six is mentioned due to the fact that HLA-B, the major histocompatibility complex, class I, B is present.

References

• Some text in this article was taken from http://ghr.nlm.nih.gov/chromosome=6 (public domain)
• Gilbert F (2002). "Chromosome 6". Genet Test 6 (4): 341-58. PMID 12537662.
• Mungall AJ (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805-11. PMID 14574404.

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