CXorf6 is a causative gene for hypospadias
| Autor: | Christine Kretz, Agneta Nordenskjöld, Tsutomu Ogata, Gen Yamada, Kanako Miyabayashi, Ken Ichirou Morohashi, Giovanna Camerino, Ichizo Nishino, Yuka Wada, Anna Buj-Bello, Jocelyn Laporte, Tomonobu Hasegawa, Maki Fukami |
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| Přispěvatelé: | Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS) |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Male
Sex Differentiation Physiology MESH: Base Sequence Mice 0302 clinical medicine MESH: Pregnancy Pregnancy Testis MESH: Gene Expression Regulation Developmental MESH: Animals Disorders of sex development MESH: Codon Nonsense In Situ Hybridization 0303 health sciences Hypospadias MESH: Hypospadias MESH: Testis MESH: Infant Newborn MESH: Sex Differentiation MESH: DNA Causative gene Gene Expression Regulation Developmental Pedigree Codon Nonsense Female medicine.medical_specialty endocrine system MESH: Pedigree Period (gene) Nonsense mutation 030209 endocrinology & metabolism Biology MESH: Chromosomes Human X 03 medical and health sciences Open Reading Frames MESH: In Situ Hybridization Internal medicine Genetics medicine Animals Humans Gene MESH: Mice 030304 developmental biology Fetus Chromosomes Human X MESH: Humans Base Sequence Infant Newborn [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology DNA MESH: Open Reading Frames medicine.disease MESH: Male Endocrinology MESH: Female |
| Zdroj: | Nature Genetics Nature Genetics, Nature Publishing Group, 2006, 38 (12), pp.1369-71. ⟨10.1038/ng1900⟩ |
| ISSN: | 1061-4036 1546-1718 |
| DOI: | 10.1038/ng1900⟩ |
| Popis: | International audience; 46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 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. |
| Databáze: | OpenAIRE |
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