Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle

Akiko Takasuga, Kunio Sato, Ryouichi Nakamura, Yosuke Saito, Shinji Sasaki, Takehito Tsuji, Akio Suzuki, Hiroshi Kobayashi, Tamako Matsuhashi, Koji Setoguchi, Hiroshi Okabe, Toshitake Ootsubo, Ichiro Tabuchi, Tatsuo Fujita, Naoto Watanabe, Takashi Hirano, Shota Nishimura, Toshio Watanabe, Makio Hayakawa, Yoshikazu SugimotoTakatoshi Kojima

研究成果査読

23 被引用数 (Scopus)

抄録

Recessive skeletal dysplasia, characterized by joint- and/or hip bone-enlargement, was mapped within the critical region for a major quantitative trait locus (QTL) influencing carcass weight; previously named CW-3 in Japanese Black cattle. The risk allele was on the same chromosome as the Q allele that increases carcass weight. Phenotypic characterization revealed that the risk allele causes disproportional tall stature and bone size that increases carcass weight in heterozygous individuals but causes disproportionately narrow chest width in homozygotes. A non-synonymous variant of FGD3 was identified as a positional candidate quantitative trait nucleotide (QTN) and the corresponding mutant protein showed reduced activity as a guanine nucleotide exchange factor for Cdc42. FGD3 is expressed in the growth plate cartilage of femurs from bovine and mouse. Thus, loss of FDG3 activity may lead to subsequent loss of Cdc42 function. This would be consistent with the columnar disorganization of proliferating chondrocytes in chondrocyte-specific inactivated Cdc42 mutant mice. This is the first report showing association of FGD3 with skeletal dysplasia.

本文言語English
論文番号e1005433
ジャーナルPLoS genetics
11
8
DOI
出版ステータスPublished - 8月 1 2015

ASJC Scopus subject areas

  • 生態、進化、行動および分類学
  • 分子生物学
  • 遺伝学
  • 遺伝学(臨床)
  • 癌研究

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