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Linkage mapping of the locus responsible for congenital multiple ocular defects in cattle on bovine Chromosome 18

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Abstract

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.

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Acknowledgments

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.

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Authors and Affiliations

  1. Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama, Japan

    Abdol Rahim Abbasi, Maryam Khalaj, Takehito Tsuji & Tetsuo Kunieda

  2. Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima, Japan

    Naoya Ihara, Toshio Watanabe & Yoshikazu Sugimoto

  3. Department of Animal Science, College of Agriculture, Isfahan University of Technology, Isfahan, Iran

    Abdol Rahim Abbasi

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  1. Abdol Rahim Abbasi
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  2. Naoya Ihara
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  3. Toshio Watanabe
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  4. Maryam Khalaj
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  5. Takehito Tsuji
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  6. Yoshikazu Sugimoto
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  7. Tetsuo Kunieda
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Correspondence to Tetsuo Kunieda.

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Abbasi, A., Ihara, N., Watanabe, T. et al. Linkage mapping of the locus responsible for congenital multiple ocular defects in cattle on bovine Chromosome 18. Mamm Genome 16, 731–737 (2005). https://doi.org/10.1007/s00335-005-0043-x

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  • DOI: https://doi.org/10.1007/s00335-005-0043-x

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