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Sex-reversing mutations affect the architecture of SRY-DNA complexes.

1994; Springer Nature; Volume: 13; Issue: 24 Linguagem: Inglês

10.1002/j.1460-2075.1994.tb06958.x

1460-2075

Andrea Pontiggia, Rebecca Rimini, Vincent R. Harley, P.N. Goodfellow, Robin Lovell‐Badge, Marco E. Bianchi,

Sexual Differentiation and Disorders

Research Article15 December 1994free access Sex-reversing mutations affect the architecture of SRY-DNA complexes. A. Pontiggia A. Pontiggia DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author R. Rimini R. Rimini DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author V.R. Harley V.R. Harley DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author P.N. Goodfellow P.N. Goodfellow DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author R. Lovell-Badge R. Lovell-Badge DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author M.E. Bianchi M.E. Bianchi DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author A. Pontiggia A. Pontiggia DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author R. Rimini R. Rimini DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author V.R. Harley V.R. Harley DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author P.N. Goodfellow P.N. Goodfellow DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author R. Lovell-Badge R. Lovell-Badge DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author M.E. Bianchi M.E. Bianchi DIBIT, San Raffaele Scientific Institute, Milano, Italy. Search for more papers by this author Author Information A. Pontiggia1, R. Rimini1, V.R. Harley1, P.N. Goodfellow1, R. Lovell-Badge1 and M.E. Bianchi1 1DIBIT, San Raffaele Scientific Institute, Milano, Italy. The EMBO Journal (1994)13:6115-6124https://doi.org/10.1002/j.1460-2075.1994.tb06958.x PDFDownload PDF of article text and main figures. ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinked InMendeleyWechatReddit Figures & Info The testis determining factor, SRY, is a DNA binding protein that causes a large distortion of its DNA target sites. We have analysed the biochemical properties of the DNA binding domains (HMG-boxes) of mutant SRY proteins from five patients with complete gonadal dysgenesis. The mutant proteins fall into three categories: two bind and bend DNA almost normally, two bind inefficiently but bend DNA normally and one binds DNA with almost normal affinity but produces a different angle. The mutations with moderate effect on complex formation can be transmitted to male progeny, the ones with severe effects on either binding or bending are de novo. The angle induced by SRY depends on the exact DNA sequence and thus adds another level of discrimination in target site recognition. These data suggest that the exact spatial arrangement of the nucleoprotein complex organized by SRY is essential for sex determination. Previous ArticleNext Article Volume 13Issue 241 December 1994In this issue RelatedDetailsLoading ...