Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu)

Authors

  • H Yamakuchi,

    1. Cattle Breeding Development Institute Kagoshima Prefecture, 2200 Tsukino, Osumi, So, Kagoshima 899-8212, Japan
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    • *

      These authors equally contributed to this work.

  • M Agaba,

    1. Shirakawa Institute of Animal Genetics, Japan Livestock Technology Association, 1 Odakura, Nishigo, Nishi-shirikawa, Fukushima 961-8061, Japan
    2. Present address: Institute of Aquaculture, University of Stirling, Stirling, Scotland FK9 4LA, UK
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    • *

      These authors equally contributed to this work.

  • T Hirano,

    1. Shirakawa Institute of Animal Genetics, Japan Livestock Technology Association, 1 Odakura, Nishigo, Nishi-shirikawa, Fukushima 961-8061, Japan
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  • K Hara,

    1. Cattle Breeding Development Institute Kagoshima Prefecture, 2200 Tsukino, Osumi, So, Kagoshima 899-8212, Japan
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  • J Todoroki,

    1. Cattle Breeding Development Institute Kagoshima Prefecture, 2200 Tsukino, Osumi, So, Kagoshima 899-8212, Japan
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  • K Mizoshita,

    1. Cattle Breeding Development Institute Kagoshima Prefecture, 2200 Tsukino, Osumi, So, Kagoshima 899-8212, Japan
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  • C Kubota,

    1. Cattle Breeding Development Institute Kagoshima Prefecture, 2200 Tsukino, Osumi, So, Kagoshima 899-8212, Japan
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  • N Tabara,

    1. Cattle Breeding Development Institute Kagoshima Prefecture, 2200 Tsukino, Osumi, So, Kagoshima 899-8212, Japan
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  • Y Sugimoto

    1. Shirakawa Institute of Animal Genetics, Japan Livestock Technology Association, 1 Odakura, Nishigo, Nishi-shirikawa, Fukushima 961-8061, Japan
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Y Sugimoto.

Summary

Chediak-Higashi Syndrome (CHS) is an autosomal recessive disorder that affects several species including mice, humans, and cattle. Evidence based on clinical characteristics and somatic cell genetics suggests that mutations in a common gene cause CHS in the three species. The CHS locus on human chromosome 1 and mouse chromosome 13 encodes a lysosomal trafficking regulator formerly known as LYST, now known as CHS1, and is defective in CHS patients and beige mice, respectively. We have mapped the CHS locus to the proximal region of bovine chromosome 28 by linkage analysis using microsatellite markers previously mapped to this chromosome. Furthermore, we have identified a missense A:T→G:C mutation that results in replacement of a histidine with an arginine residue at codon 2015 of the CHS1 gene. This mutation is the most likely cause of CHS in Wagyu cattle. In addition, we describe quick, inexpensive, PCR based tests that will permit elimination of the CHS mutation from Wagyu breeding herds.

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