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

Tetsuo Kunieda, Michiko Nakagiri, Marika Takami, Hanako Ide, Hiroyuki Ogawa

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)1146-1149
Number of pages4
JournalMammalian Genome
Volume10
Issue number12
DOIs
Publication statusPublished - 1999

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Chediak-Higashi Syndrome
Missense Mutation
Organism Cloning
Genes
Mutation
Nucleotides
Complementary DNA
Recessive Genes
Amino Acid Substitution
Pedigree
Gene Library
Histidine
Population
Arginine
Amino Acid Sequence
Color

ASJC Scopus subject areas

  • Genetics

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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.

In: Mammalian Genome, Vol. 10, No. 12, 1999, p. 1146-1149.

Research output: Contribution to journalArticle

Kunieda, Tetsuo ; Nakagiri, Michiko ; Takami, Marika ; Ide, Hanako ; Ogawa, Hiroyuki. / Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle. In: Mammalian Genome. 1999 ; Vol. 10, No. 12. pp. 1146-1149.
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