The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

Satoshi Tsutsumi, Nobuyuki Kamata, Tamara J. Vokes, Yutaka Maruoka, Koichi Nakakuki, Shoji Enomoto, Ken Omura, Teruo Amagasa, Masaru Nagayama, Fumiko Saito-Ohara, Johji Inazawa, Maki Moritani, Takashi Yamaoka, Hiroshi Inoue, Mitsuo Itakura

Research output: Contribution to journalArticlepeer-review

115 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1255-1261
Number of pages7
JournalAmerican Journal of Human Genetics
Volume74
Issue number6
DOIs
Publication statusPublished - 2004 Jun

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)'. Together they form a unique fingerprint.

Cite this