{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:46:21Z","timestamp":1781106381349,"version":"3.54.1"},"reference-count":40,"publisher":"National Academy of Sciences","issue":"16","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2002,8,6]]},"abstract":"<jats:p>\n                    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 \u22482 cM by using linkage analysis, constructed a BAC and YAC contig covering this region, and identified a gene,\n                    <jats:italic>LIMBIN<\/jats:italic>\n                    (\n                    <jats:italic>LBN<\/jats:italic>\n                    ), 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\n                    <jats:italic>Lbn<\/jats:italic>\n                    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\n                    <jats:italic>LBN<\/jats:italic>\n                    is responsible for bovine chondrodysplastic dwarfism and has a critical role in a skeletal development.\n                  <\/jats:p>","DOI":"10.1073\/pnas.152337899","type":"journal-article","created":{"date-parts":[[2002,9,30]],"date-time":"2002-09-30T12:42:53Z","timestamp":1033389773000},"page":"10549-10554","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":64,"title":["Positional cloning of the gene\n                    <i>LIMBIN<\/i>\n                    responsible for bovine chondrodysplastic dwarfism"],"prefix":"10.1073","volume":"99","author":[{"given":"Haruko","family":"Takeda","sequence":"first","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Takami","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Oguni","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takehito","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Yoneda","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Sato","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoya","family":"Ihara","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohito","family":"Itoh","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srinivas R.","family":"Kata","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Mishina","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Womack","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuo","family":"Moritomo","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshikazu","family":"Sugimoto","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; Department of Veterinary Pathobiology, Texas..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Kunieda","sequence":"additional","affiliation":[{"name":"Shirakawa Institute of Animal Genetics, Nishi-shirakawa, Fukushima 961-8061, Japan; Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan; Animal Husbandry Research Institute, Kumamoto Prefectural Agricultural Research Center, Kikuchi-gun, Kumamoto 861-1113, Japan; Department of Oral Morphology, Okayama University Graduate School of Medicine and Dentistry, Shikata-cho, Okayama 700-8525, Japan; 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