These authors equally contributed to this work.
Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu)
Article first published online: 2 JAN 2002
Volume 31, Issue 1, pages 13–19, January 2000
How to Cite
Yamakuchi, H., Agaba, M., Hirano, T., Hara, K., Todoroki, J., Mizoshita, K., Kubota, C., Tabara, N. and Sugimoto, Y. (2000), Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu). Animal Genetics, 31: 13–19. doi: 10.1046/j.1365-2052.2000.00586.x
- Issue published online: 2 JAN 2002
- Article first published online: 2 JAN 2002
- Accepted 11 June 1999
- Chediak-Higashi syndrome;
- beige mouse;
- lysosomal trafficking regulator;
- CHS1 gene;
- Allele-specific PCR;
- Wagyu cattle
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.