Jul 24, 2002

Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism

Proceedings of the National Academy of Sciences of the United States of America
Haruko TakedaTetsuo Kunieda

Abstract

Chondrodysplastic dwarfism in Japanese brown cattle is an autosomal recessive disorder characterized by short limbs. Previously, we mapped the locus responsible for the disease on the distal end of bovine chromosome 6. Here, we narrowed the critical region to approximately 2 cM by using linkage analysis, constructed a BAC and YAC contig covering this region, and identified a gene, LIMBIN (LBN), that possessed disease-specific mutations in the affected calves. One mutation was a single nucleotide substitution leading to an activation of a cryptic splicing donor site and the other was a one-base deletion resulting in a frameshift mutation. Strong expression of the Lbn gene was observed in limb buds of developing mouse embryos and in proliferating chondrocytes and bone-forming osteoblasts in long bones. These findings indicate that LBN is responsible for bovine chondrodysplastic dwarfism and has a critical role in a skeletal development.

  • References31
  • Citations39

Mentioned in this Paper

Embryo
CFC1 gene
Bos taurus
Gene Deletion Abnormality
Chromosomes, Human, Pair 6
Chondrocyte
Cattle Diseases
Limb Structure
Genome Mapping
Donor Site

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