SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

被引：97

作者：

Okada, Ippei ^{[1
]}

Hamanoue, Haruka ^{[1
,2
]}

Terada, Koji ^{[3
]}

Tohma, Takaya ^{[4
,5
]}

Megarbane, Andre ^{[6
]}

Chouery, Eliane ^{[6
]}

Abou-Ghoch, Joelle ^{[6
]}

Jalkh, Nadine ^{[6
]}

Cogulu, Ozgur ^{[7
]}

Ozkinay, Ferda ^{[7
]}

Horie, Kyoji ^{[8
]}

Takeda, Junji ^{[8
,9
]}

Furuichi, Tatsuya ^{[10
,11
]}

Ikegawa, Shiro ^{[10
]}

Nishiyama, Kiyomi ^{[1
]}

Miyatake, Satoko ^{[1
]}

Nishimura, Akira ^{[1
]}

Mizuguchi, Takeshi ^{[1
]}

Niikawa, Norio ^{[12
,13
]}

Hirahara, Fumiki ^{[2
]}

Kaname, Tadashi ^{[14
]}

Yoshiura, Koh-ichiro ^{[13
]}

Tsurusaki, Yoshinori ^{[1
]}

Doi, Hiroshi ^{[1
]}

Miyake, Noriko ^{[1
]}

Furukawa, Takahisa ^{[3
]}

Matsumoto, Naomichi ^{[1
]}

Saitsu, Hirotomo ^{[1
]}

机构：

[1] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

[2] Yokohama City Univ, Grad Sch Med, Dept Obstet & Gynecol, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

[3] Osaka Biosci Inst, Dept Dev Biol, Osaka 5650874, Japan

[4] Okinawa Prefectural Nanbu Med Ctr, Div Pediat, Okinawa 9011193, Japan

[5] Childrens Med Ctr, Okinawa 9011193, Japan

[6] St Joseph Univ, Med Genet Unit, Beirut 11042020, Lebanon

[7] Ege Univ, Fac Med, Dept Pediat, TR-35100 Bornova, Turkey

[8] Osaka Univ, Grad Sch Med, Dept Social & Environm Med, Suita, Osaka 5650871, Japan

[9] Osaka Univ, Ctr Adv Sci & Innovat, Suita, Osaka 5650871, Japan

[10] RIKEN, Ctr Genom Med, Lab Bone & Joint Dis, Minato Ku, Tokyo 1088639, Japan

[11] Jikei Univ, Sch Med, Res Ctr Med Sci, Lab Anim Facil,Minato Ku, Tokyo 1058461, Japan

[12] Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Ishikari, Hokkaido 0610293, Japan

[13] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 8528523, Japan

[14] Univ Ryukyus, Fac Med, Dept Med Genet, Okinawa 9030215, Japan

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 88卷 / 01期

基金：

日本科学技术振兴机构; 日本学术振兴会;

关键词：

OPHTHALMO-ACROMELIC SYNDROME; BONE MORPHOGENETIC PROTEIN-7; SKELETAL ANOMALIES; MUTATIONS; WAARDENBURG; BINDING; EXPRESSION; BRAIN; LOCUS; GDF6;

D O I：

10.1016/j.ajhg.2010.11.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：30 / 41

页数：12

共 40 条

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