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Cited by 59Immunodeficiency and Autoimmune DisordersGenetic and phenotypic traits in livestockAnimal health and immunology

Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle

Kunieda, Tetsuo, Nakagiri, Michiko, Takami, Marika, Ide, Hanako, Ogawa, Hiroyuki·1999·Mammalian Genome
DOI 10.1007/s003359901181
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Abstract

An inheritable bleeding disorder with light coat color caused by an autosomal recessive gene has been reported in a population of Japanese black cattle. The disease has been diagnosed as Chediak-Higashi Syndrome (CHS) of cattle which correspond to a human inheritable disorder caused by mutation in LYST gene. To characterize the molecular lesion causing CHS in cattle, cDNAs encoding bovine LYST were isolated from a bovine brain cDNA library. The nucleotide and deduced amino acid sequences of bovine LYST had 89.6 and 90.2% identity with those of the human LYST gene, respectively. In order to identify the mutation within the LYST gene causing CHS in cattle, cDNA fragments of the LYST gene were amplified from an affected animal by RT-PCR and their nucleotide sequences were completely determined. Notably, a nucleotide substitution of A to G transition, resulting in an amino acid substitution of histidine to arginine (H2015R) was identified in the affected animal. The presence of the substitution was completely corresponding with the occurrence of the CHS phenotype among 105 members of pedigrees of the Japanese black cattle and no cattle of other populations had this substitution. These findings strongly suggested that H2015R is the causative mutation in CHS of Japanese black cattle.

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Crossref · 10.1007/s003359901181

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  • Lyst-mutant phenotypes in cattle, mice, rats and mink are characterized by hypopigmentation, a melanosome defect characterized by light coat colour.

    “The types and positions of mutations identified in LYST vary widely, but Lyst-mutant phenotypes in cattle, mice, rats and mink are characterized by hypopigmentation, a melanosome defect characterized by light coat colour (Kunieda et al., 1999; Runkel et al., 2006; Gutiérrez-Gil et al., 2007).”

    From Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears (2014) · cites this paper as Kunieda et al., 1999

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Authors
Kunieda, T., Nakagiri, M., Takami, M., Ide, H., & Ogawa, H.
Affiliations
  • Okayama University (JP)
  • University of Miyazaki (JP)
  • The University of Tokyo (JP)
ORCID
Venue
Mammalian Genome
Publisher
Springer Science and Business Media LLC
Published
1999-12
Volume
10
Issue
12
Pages
1146-1149
ISSN
  • 0938-8990 (ISSN-L)
  • 1432-1777
DOI
10.1007/s003359901181
OpenAlex
W1993107763
Cited by
59
References
26
Citations by year
2026: 2 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 6 · 2021: 3 · 2020: 5 · 2019: 1 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 4 · 2012: 4
FWCI
1.13
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Mammalian Genome (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
  • Health Sciences › Veterinary › Small Animals › Animal health and immunology
Keywords
Chediak-Higashi syndrome, LYST gene, cattle, Japanese Black cattle, missense mutations, autosomal recessive inheritance, inherited bleeding disorders, coat color, gene cloning, cDNA sequence
MeSH terms
Amino Acid Sequence, Animals, Base Sequence, Cattle, Cattle Diseases, Chediak-Higashi Syndrome, Cloning, Molecular, Genes, Recessive, Genotype, Hair Color, Humans, Liver, Molecular Sequence Data, Phenotype, Proteins, Polymorphism, Restriction Fragment Length, Sequence Homology, Amino Acid, DNA, Complementary, Amino Acid Substitution, Mutation, Missense, Vesicular Transport Proteins

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