TY - JOUR
T1 - The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)
AU - Tsutsumi, Satoshi
AU - Kamata, Nobuyuki
AU - Vokes, Tamara J.
AU - Maruoka, Yutaka
AU - Nakakuki, Koichi
AU - Enomoto, Shoji
AU - Omura, Ken
AU - Amagasa, Teruo
AU - Nagayama, Masaru
AU - Saito-Ohara, Fumiko
AU - Inazawa, Johji
AU - Moritani, Maki
AU - Yamaoka, Takashi
AU - Inoue, Hiroshi
AU - Itakura, Mitsuo
N1 - Funding Information:
We thank the patients with GDD and their families for their participation in this study. This study was approved by institutional review boards of the University of Tokushima and the University of Chicago. We thank Drs. David Ehrman and Graeme Bell for 50 African American control samples, derived from the General Clinical Research Center at the University of Chicago (grant M01RR00055). We also thank Dr. Takayuki Morisaki for 30 African American control samples. This work was supported by grants from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (Special Coordination Funds for Promoting Science and Technology) and the Japan Society for the Promotion of Science (Research for the Future Program).
PY - 2004/6
Y1 - 2004/6
N2 - Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. By linkage analysis of a large Japanese family with GDD, we previously mapped the GDD locus to chromosome 11p4.3-15.1. In the critical region determined by recombination mapping, we identified a novel gene (GDD1) that encodes a 913-amino-acid protein containing eight putative transmembrane-spanning domains. Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cellular localization to the endoplasmic reticulum suggests a role for GDD1 in the regulation of intracellular calcium homeostasis.
AB - Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. By linkage analysis of a large Japanese family with GDD, we previously mapped the GDD locus to chromosome 11p4.3-15.1. In the critical region determined by recombination mapping, we identified a novel gene (GDD1) that encodes a 913-amino-acid protein containing eight putative transmembrane-spanning domains. Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cellular localization to the endoplasmic reticulum suggests a role for GDD1 in the regulation of intracellular calcium homeostasis.
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U2 - 10.1086/421527
DO - 10.1086/421527
M3 - Article
C2 - 15124103
AN - SCOPUS:2442653843
VL - 74
SP - 1255
EP - 1261
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 6
ER -