CXorf6 is a causative gene for hypospadias

被引：102

作者：

Fukami, Maki

Wada, Yuka

Miyabayashi, Kanako

Nishino, Ichizo

Hasegawa, Tomonobu

Camerino, Giovanna

Kretz, Christine

Buj-Bello, Anna

Laporte, Jocelyn

Yamada, Gen

Morohashi, Ken-ichirou

Ogata, Tsutomu

机构：

[1] Natl Inst Basic Biol, Div Sex Differentiat, Okazaki, Aichi 4448787, Japan

[2] Natl Inst Neurosci, Dept Neuromuscular Res, Kodaira, Tokyo 1878502, Japan

[3] Keio Univ, Sch Med, Dept Pediat, Tokyo 1608582, Japan

[4] Univ Pavia, Dipartimento Patol Umana & Ereditaria, Sezione Biol Gen & Genet Med, I-27100 Pavia, Italy

[5] Inst Genet & Biol Mol & Cellulaire, Dept Mol Pathol, F-67404 Illkirch Graffenstaden, France

[6] Kumamoto Univ, Sch Med, Ctr Anim Resources & Dev, Kumamoto 860, Japan

来源：

NATURE GENETICS | 2006年 / 38卷 / 12期

关键词：

D O I：

10.1038/ng1900

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects similar to 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias.

引用

收藏

页码：1369 / 1371

页数：3

相关论文

共 10 条

[1] The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case [J].

Bartsch, O ;

Kress, W ;

Wagner, A ;

Seemanova, E .

CYTOGENETICS AND CELL GENETICS, 1999, 85 (3-4) :310-314

[2] Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype [J].

Biancalana, V ;

Caron, O ;

Gallati, S ;

Baas, F ;

Kress, W ;

Novelli, G ;

D'Apice, MR ;

Lagier-Tourenne, C ;

Buj-Bello, A ;

Romero, NB ;

Mandel, JL .

HUMAN GENETICS, 2003, 112 (02) :135-142

[3] A perfect message: RNA surveillance and nonsense-mediated decay [J].

Hentze, MW ;

Kulozik, AE .

CELL, 1999, 96 (03) :307-310

[4] Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region [J].

Hu, LJ ;

Laporte, J ;

Kress, W ;

Kioschis, P ;

Siebenhaar, R ;

Poustka, A ;

Fardeau, M ;

Metzenberg, A ;

Janssen, EA ;

Thomas, N ;

Mandel, JL ;

Dahl, N .

HUMAN MOLECULAR GENETICS, 1996, 5 (01) :139-143

[5] Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy [J].

Laporte, J ;

Kioschis, P ;

Hu, LJ ;

Kretz, C ;

Carlsson, B ;

Poustka, A ;

Mandel, JL ;

Dahl, N .

GENOMICS, 1997, 41 (03) :458-462

[6] Mutations in the MTM1 gene implicated in X-linked myotubular myopathy [J].

Laporte, J ;

GuiraudChaumeil, C ;

Vincent, MC ;

Mandel, JL ;

Tanner, SM ;

LiechtiGallati, S ;

WallgrenPettersson, C ;

Dahl, N ;

Kress, W ;

Bolhuis, PA ;

Fardeau, M ;

Samson, F ;

Bertini, E .

HUMAN MOLECULAR GENETICS, 1997, 6 (09) :1505-1511

[7] Adrenocortical and gonadal expression of the mammalian Ftz-F1 gene encoding Ad4BP/SF-1 is independent of pituitary control [J].

Nomura, M ;

Kawabe, K ;

Matsushita, S ;

Oka, S ;

Hatano, O ;

Harada, N ;

Nawata, H ;

Morohashi, K .

JOURNAL OF BIOCHEMISTRY, 1998, 124 (01) :217-224

[8] Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism [J].

Tsai, TC ;

Horinouchi, H ;

Noguchi, S ;

Minami, N ;

Murayama, K ;

Hayashi, YK ;

Nonaka, I ;

Nishino, I .

NEUROMUSCULAR DISORDERS, 2005, 15 (03) :245-252

[9] PITUITARY-GONADAL RELATIONS IN INFANCY .2. PATTERNS OF SERUM GONADAL STEROID CONCENTRATIONS IN MAN FROM BIRTH TO 2 YEARS OF AGE [J].

WINTER, JSD ;

HUGHES, IA ;

REYES, FI ;

FAIMAN, C .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1976, 42 (04) :679-686

[10]

[No title captured]