Human type I hair keratin pseudogene ϕhHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence

@article{Winter2000HumanTI,
  title={Human type I hair keratin pseudogene ϕhHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence},
  author={Hermelita Winter and Lutz Langbein and Michael Krawczak and David N. Cooper and Luis Felipe Jave-Su{\'a}rez and Michael A. Rogers and Silke Praetzel and Peter J. Heidt and Jürgen Schweizer},
  journal={Human Genetics},
  year={2000},
  volume={108},
  pages={37-42}
}
Abstract. In addition to nine functional genes, the human type I hair keratin gene cluster contains a pseudogene, ϕhHaA (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 ϕhHaA nonsense mutation in humans of different ethnic backgrounds, but its absence in the functional orthologous chimpanzee… Expand
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