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={H. Winter and L. Langbein and M. Krawczak and D. Cooper and L. Jave-Su{\'a}rez and M. A. Rogers and S. Praetzel and P. Heidt and J. Schweizer},
  journal={Human Genetics},
  year={2000},
  volume={108},
  pages={37-42}
}
  • H. Winter, L. Langbein, +6 authors J. Schweizer
  • Published 2000
  • Medicine, Biology
  • Human Genetics
  • 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… CONTINUE READING
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    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 28 REFERENCES
    X chromosome evidence for ancient human histories.
    • 214
    • PDF