The RhoGEF domain corresponds to the region from His-164 to Ala-344 of bovine FGD3.
(A) His-171 of bovine FGD3 and the flanking region is well conserved among mammalian species. This is the first report showing association of FGD3 with skeletal dysplasia. This would be consistent with the columnar disorganization of proliferating chondrocytes in chondrocyte-specific inactivated Cdc42 mutant mice. Thus, loss of FDG3 activity may lead to subsequent loss of Cdc42 function. FGD3 is expressed in the growth plate cartilage of femurs from bovine and mouse. 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.
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. The risk allele was on the same chromosome as the Q allele that increases carcass weight. 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. 15 National Livestock Breeding Center, Odakura, Nishigo, Fukushima, Japan.14 School of Pharmacy, Tokyo University of Pharmacy and Life Science, Hachioji, Tokyo, Japan.13 Shirakawa Institute of Animal Genetics, Japan Livestock Technology Association, Odakura, Nishigo, Fukushima, Japan.12 Tottori Animal Husbandry Experiment Station, Kotoura, Touhaku, Tottori, Japan.11 Saga Prefectural Livestock Experiment Station, Yamauchi, Takeo, Saga, Japan.10 Nagasaki Prefectural Beef Cattle Improvement Center, Tabiracho Kotedamen, Hirado, Nagasaki, Japan.9 Cattle Breeding Development Institute of Kagoshima Prefecture, Osumi, So, Kagoshima, Japan.8 Gifu Prefectural Livestock Research Institute, Kiyomi, Takayama, Gifu, Japan.7 Okayama Prefectural Research Institute of Livestock Industry, Misaki, Kume, Okayama, Japan.6 Aomori Prefectural Industrial Technology Research Center, Moritatukimino, Morita, Tugaru, Aomori, Japan.5 Graduate School of Environmental and Life Science, Okayama University, Tsushima-naka, Okayama, Japan.4 Miyagi Prefectural Livestock Experiment Station, Iwadeyama, Osaki, Miyagi, Japan.3 Shimane Prefectural Livestock Technology Center, Koshi, Izumo, Shimane, Japan.2 Oita Prefectural Agriculture, Forestry and Fisheries Research Center, Kuju, Takeda, Oita, Japan.1 National Livestock Breeding Center, Odakura, Nishigo, Fukushima, Japan Shirakawa Institute of Animal Genetics, Japan Livestock Technology Association, Odakura, Nishigo, Fukushima, Japan.These synonyms for the word accounted for are provided for your information only.
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