title: Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu).
abstract: 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.
authors.affiliation: Cattle Breeding Development Institute Kagoshima Prefecture, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yamakuchi
authors.forename: M
authors.initials: M
authors.lastname: Agaba
authors.forename: T
authors.initials: T
authors.lastname: Hirano
authors.forename: K
authors.initials: K
authors.lastname: Hara
authors.forename: J
authors.initials: J
authors.lastname: Todoroki
authors.forename: K
authors.initials: K
authors.lastname: Mizoshita
authors.forename: C
authors.initials: C
authors.lastname: Kubota
authors.forename: N
authors.initials: N
authors.lastname: Tabara
authors.forename: Y
authors.initials: Y
authors.lastname: Sugimoto
mesh_terms: D000483:Alleles; D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000097:blood / Q000235:genetics*; D002609:Chediak-Higashi Syndrome / Q000097:blood / Q000235:genetics / Q000662:veterinary*; D004252:DNA Mutational Analysis; D004804:Eosinophils / Q000473:pathology; D005820:Genetic Testing / Q000662:veterinary*; D006579:Heterozygote; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D033921:Vesicular Transport Proteins
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C491133:Lyst protein, mouse; D011506:Proteins; D033921:Vesicular Transport Proteins