Linkage mapping of the locus responsible for congenital multiple ocular defects in cattle on bovine Chromosome 18
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Congenital multiple ocular defects (MOD) in Japanese black cattle is a hereditary ocular disorder with an autosomal recessive manner of inheritance, showing developmental defects of the lens, retina, and iris, persistent embryonic eye vascularization, and microphthalmia. In the present study, we mapped the locus responsible for the disorder by linkage analysis using 240 microsatellite markers covering the entire bovine genome and an inbred pedigree obtained from commercial herds. The linkage analysis demonstrated a significant linkage between the disorder locus and markers on the proximal region of bovine Chromosome (BTA) 18 with the maximum LOD score of 5.1. Homozygosity mapping using the haplotype of the linked markers further refined the critical region. The results revealed the localization of the locus responsible for MOD in an approximately 6.6-cM region of BTA18. Comparison of published linkage and radiation hybrid (RH) maps of BTA18 with its evolutionary ortholog, human Chromosome (HSA) 16, revealed several potential candidate genes for the disorder including the MAF and FOXC2 genes.
KeywordsMicrosatellite Marker Microphthalmia Homozygosity Mapping Bovine Chromosome Japanese Black Cattle
We thank Drs. Hiroyuki Ogawa, Kazuyuki Uchida, and Mr. Muki Tanahara for providing clinical, pathological, and familial data of MOD cattle, respectively. This work was supported by grants from Ministry of Agriculture, Forestry, and Fisheries of Japan, Ministry of Education, Culture, Sports, Science and Technology of Japan, and Livestock Improvement Association of Japan, Inc.
- DePianto DJ, Blankenship TN, Hess JF, FitzGerald PG. (2003) Analysis of non-crystallin lens fiber cell gene expression in c-Maf −/− mice. Mol Vision 9: 288-294Google Scholar
- Everts-van der Wind A, Kata SR, Band MR, Rebeiz M, Larkin DM, et al. (2004) A 1,463 gene cattle-human comparative map with anchor points defined by human genome sequence coordinates. Genome Res14: 1424-1437Google Scholar
- Kaswan RL, Collins LG, Blue JL, Martin CL (1987) Multiple hereditary ocular anomalies in a herd of cattle. J Am Vet Med Assoc 191: 9799Google Scholar
- Scott FW, Kahrs RF, de Lahanta A, Brown TT, McEntee K (1973) Virus-induced congenital anomalies of the bovine fetus. I. Cerebellar degeneration (hypoplasia), ocular lesions and fetal mummification following experimental infection with bovine viral diarrhea-mucosal disease virus. Cornell Vet 63: 536-560PubMedGoogle Scholar
- Uchida K, Hasegawa T, Tanahara T, Kunieda T, Ogawa H, et al. (2005) Congenital multiple ocular defects with falciform retinal folds among japanese black cattle at Okinawa, Japan, in press Google Scholar
- Ward GM (1971) Bovine viral diarrhea-mucosal disease implicated in a calf with cerebellar hypoplasia and ocular disease. A case report. Cornell Vet 61: 224-228Google Scholar
- Wilcock BP (1992) The eye and ear. In Jubb KVF, Kennedy PC, Palmer N (eds.) Pathology of Domestic Animals, San Diego, CA: Academic Press, pp 441-529Google Scholar