Mammalian Genome

, Volume 16, Issue 9, pp 731–737 | Cite as

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

  • Abdol Rahim Abbasi
  • Naoya Ihara
  • Toshio Watanabe
  • Maryam Khalaj
  • Takehito Tsuji
  • Yoshikazu Sugimoto
  • Tetsuo KuniedaEmail author


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.


Microsatellite Marker Microphthalmia Homozygosity Mapping Bovine Chromosome Japanese Black Cattle 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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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Copyright information

© Springer Science+Business Media, Inc. 2005

Authors and Affiliations

  • Abdol Rahim Abbasi
    • 1
    • 3
  • Naoya Ihara
    • 2
  • Toshio Watanabe
    • 2
  • Maryam Khalaj
    • 1
  • Takehito Tsuji
    • 1
  • Yoshikazu Sugimoto
    • 2
  • Tetsuo Kunieda
    • 1
    Email author
  1. 1.Graduate School of Natural Science and TechnologyOkayama UniversityTsushima-nakaJapan
  2. 2.Shirakawa Institute of Animal GeneticsNishi-shirakawaJapan
  3. 3.Department of Animal Science, College of AgricultureIsfahan University of TechnologyIsfahanIran

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