Article
Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence.
Human genetics - 1 Jan 2001
Winter H, Langbein L, Krawczak M, Cooper D N, Jave-Suarez L F, Rogers M A, Praetzel S, Heidt P J, Schweizer J
Abstract excerpt
In addition to nine functional genes, the human type I hair keratin gene cluster contains a pseudogene, phihHaA (KRTHAP1), which is thought to have been inactivated by a single base-pair substitution that introduced a premature TGA termination codon into exon 4. Large-scale genotyping of human, chimpanzee, and gorilla DNAs revealed the homozygous presence of the phihHaA nonsense mutation in humans of different...
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