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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
SMOC1 is essential for ocular and limb development in humans and mice
American Journal of Human Genetics, Volume 88, No. 1, Year 2011
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Description
Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three families. Smoc1 is expressed in the developing optic stalk, ventral optic cup, and limbs of mouse embryos. Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. A thinned and irregular ganglion cell layer and atrophy of the anteroventral part of the retina were also observed. Soft tissue syndactyly, resulting from inhibited apoptosis, was related to disturbed expression of genes involved in BMP signaling in the interdigital mesenchyme. Our findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice. © 2011 The American Society of Human Genetics.
Authors & Co-Authors
Okada, Ippei
Japan, Yokohama
School of Medicine
Hamanoue, Haruka
Japan, Yokohama
School of Medicine
Terada, Koji
Japan, Suita
Osaka Bioscience Institute
Tohma, Takaya
Japan, Okinawa
Children's Medical Center
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Chouery, Éliane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Abou-Ghoch, Joelle
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Jalkh, Nadine
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Cogulu, Ozgur
Turkey, Izmir
Ege Üniversitesi
Ozkinay, Ferda
Turkey, Izmir
Ege Üniversitesi
Horie, Kyoji
Japan, Suita
Graduate School of Medicine
Takeda, Junji
Japan, Suita
Graduate School of Medicine
Japan, Suita
Osaka University
Furuichi, Tatsuya
Japan, Wako
Riken
Japan, Tokyo
The Jikei University School of Medicine
Ikegawa, Shiro
Japan, Wako
Riken
Nishiyama, Kiyomi
Japan, Yokohama
School of Medicine
Miyatake, Satoko
Japan, Yokohama
School of Medicine
Nishimura, Akira
Japan, Yokohama
School of Medicine
Mizuguchi, Takeshi
Japan, Yokohama
School of Medicine
Niikawa ., Norio
Japan, Ishikari District
Health Sciences University of Hokkaido
Japan, Nagasaki
Nagasaki University
Hirahara, Fumiki
Japan, Yokohama
School of Medicine
Kaname, Tadashi
Japan, Nishihara
University of the Ryukyus
Yoshiura, Kohichiro
Japan, Nagasaki
Nagasaki University
Tsurusaki, Yoshinori
Japan, Yokohama
School of Medicine
Doi, Hiroshi
Japan, Yokohama
School of Medicine
Miyake, Noriko
Japan, Yokohama
School of Medicine
Furukawa, Takahisa
Japan, Suita
Osaka Bioscience Institute
Matsumoto, Naomichi
Japan, Yokohama
School of Medicine
Saitsu, Hirotomo
Japan, Yokohama
School of Medicine
Statistics
Citations: 104
Authors: 28
Affiliations: 12
Identifiers
Doi:
10.1016/j.ajhg.2010.11.012
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics
Violence And Injury