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Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas by Barbara Royer; Dinesh C Soares; Paul N Barlow; Ronald E Bontrop; Patrice Roll; Andrée Robaglia-Schlupp; Antoine Blancher; Anthony Levasseur; Pierre Cau; Pierre Pontarotti; Pierre Szepetowski is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
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## Background The X-linked __SRPX2__ gene encodes a Sushi Repeat-containing Protein of unknown function and is mutated in two disorders of the Rolandic/Sylvian speech areas. Since it is linked to defects in the functioning and the development of brain areas for speech production, __SRPX2__ may thus have participated in the adaptive organization of such brain regions. To address this issue, we have examined the recent molecular evolution of the __SRPX2__ gene. ## Results The complete coding region was sequenced in 24 human X chromosomes from worldwide populations and in six representative nonhuman primate species. One single, fixed amino acid change (R75K) has been specifically incorporated in human SRPX2 since the human-chimpanzee split. The R75K substitution occurred in the first sushi domain of SRPX2, only three amino acid residues away from a previously reported disease-causing mutation (Y72S). Three-dimensional structural modeling of the first sushi domain revealed that Y72 and K75 are both situated in the hypervariable loop that is usually implicated in protein-protein interactions. The side-chain of residue 75 is exposed, and is located within an unusual and SRPX-specific pro
Who reads Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Barbara Royer; Dinesh C Soares; Paul N Barlow; Ronald E Bontrop; Patrice Roll; Andrée Robaglia-Schlupp; Antoine Blancher; Anthony Levasseur; Pierre Cau; Pierre Pontarotti; Pierre Szepetowski
- Publisher
- BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC (ISSN 1471-2156)
- Published
- 2007
- Language
- EN
- ISBN
- 9781471215681
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)