title: Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle.
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.
authors.affiliation: Faculty of Agriculture, Okayama University, Tsushima-naka, Okayama 700-8530, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kunieda
authors.forename: M
authors.initials: M
authors.lastname: Nakagiri
authors.forename: M
authors.initials: M
authors.lastname: Takami
authors.forename: H
authors.initials: H
authors.lastname: Ide
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D002609:Chediak-Higashi Syndrome / Q000235:genetics / Q000662:veterinary*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005838:Genotype; D006200:Hair Color / Q000235:genetics; D006801:Humans; D008099:Liver / Q000378:metabolism; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D033921:Vesicular Transport Proteins
chemical_list: D018076:DNA, Complementary; C102161:LYST protein, human; D011506:Proteins; D033921:Vesicular Transport Proteins