CHROMOSOME 8 (HUMAN)

(Redirected from Chromosome 8)

'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.

Contents

Genes

Diseases & disorders

References

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

★ WRN: Werner Syndrome

Diseases & disorders

The following diseases are some of those related to genes on chromosome 8:

★ Charcot-Marie-Tooth disease

★ Charcot-Marie-Tooth disease, type 2

★ Charcot-Marie-Tooth disease, type 4

★ congenital hypothyroidism

★ familial lipoprotein lipase deficiency

★ Primary microcephaly

★ Hereditary Multiple Exostoses

★ Pfeiffer syndrome

★ Rothmund-Thomson syndrome, or poikiloderma congenitale

★ Waardenburg syndrome

★ Werner syndrome

References

★ Chromosome 8, Gilbert F, , , Genet Test, 2001

★ DNA sequence and analysis of human chromosome 8, Nusbaum C et al., , , Nature, 2006