Sandbox Reserved 1120: Difference between revisions
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==SRY gene== | ==SRY gene== | ||
The SRY gene encodes the SRY protein. The SRY protein is a transcriptional factor that induces the male phenotype in the embryo. The SRY gene is located on the [https://en.wikipedia.org/wiki/Y_chromosome Y chromosome] in the short arm (p) 11.3 <ref>[http://www.ncbi.nlm.nih.gov/gene/6736 NCBI gene]</ref>. This gene has only one exon that contains the HMG domain (DNA-binding High-Mobility Group box domain). It means that SRY mRNA does not have an alternative splicing, so there is only one isoforme of SRY protein<ref> McElreavey K, Barbaux S, Ion A, Fellous M. The genetic basis of murine and human sex determination: a review. Heredity. 1995 Dec;75 ( Pt 6):599–611. [http://www.ncbi.nlm.nih.gov/pubmed/8575930]</ref>. Moreover, the human genome contains only one copy of the SRY gene, whereas the mouse genome contains 6 copy of this gene<ref> Sekido R, Lovell-Badge R. Genetic control of testis development. Sex Dev Genet Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ. 2013;7(1-3):21–32 </ref>. | The SRY gene encodes the SRY protein. The SRY protein is a transcriptional factor that induces the male phenotype in the embryo. The SRY gene is located on the [https://en.wikipedia.org/wiki/Y_chromosome Y chromosome] in the short arm (p) 11.3 <ref>[http://www.ncbi.nlm.nih.gov/gene/6736 NCBI gene]</ref>. This gene has only one exon that contains the HMG domain (DNA-binding High-Mobility Group box domain). It means that SRY mRNA does not have an alternative splicing, so there is only one isoforme of SRY protein<ref name!"McE"> McElreavey K, Barbaux S, Ion A, Fellous M. The genetic basis of murine and human sex determination: a review. Heredity. 1995 Dec;75 ( Pt 6):599–611. [http://www.ncbi.nlm.nih.gov/pubmed/8575930]</ref>. Moreover, the human genome contains only one copy of the SRY gene, whereas the mouse genome contains 6 copy of this gene<ref> Sekido R, Lovell-Badge R. Genetic control of testis development. Sex Dev Genet Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ. 2013;7(1-3):21–32 </ref>. | ||
===Sequence of the SRY gene=== | ===Sequence of the SRY gene=== | ||
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The SRY protein contains nuclear localization signals in N and C terminals. An acetylation of these domains allows the exportation of the SRY protein to the nucleus<ref>Harley VR, Clarkson MJ, Argentaro A. The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]. Endocr Rev. 2003 Aug 1;24(4):466–87. [http://press.endocrine.org/doi/10.1210/er.2002-0025?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed&]</ref>. | The SRY protein contains nuclear localization signals in N and C terminals. An acetylation of these domains allows the exportation of the SRY protein to the nucleus<ref>Harley VR, Clarkson MJ, Argentaro A. The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]. Endocr Rev. 2003 Aug 1;24(4):466–87. [http://press.endocrine.org/doi/10.1210/er.2002-0025?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed&]</ref>. | ||
The SRY protein activates the ''SOX9'' (SRY-box9) gene <ref | The SRY protein activates the ''SOX9'' (SRY-box9) gene <ref name="McE" />. This gene is found in long arm 24.3 of the chromosome 17<ref> NCBI [http://www.ncbi.nlm.nih.gov/gene/6662 NCBI gene: SOX9 SRY-BOX9 Homo sapiens] </ref> and is implicated in the stimulation of the differentiation of pre-Sertori into Sertoli cells rather than granulosa cells. | ||
The activation of ''SOX''9 is done by the SRY protein and another transcriptional factor: SF1 (steroidogenic factor 1). These transcriptional factors are bound on an enhancer called: TESCO (Testis-Specific Enhancer of ''SOX9'' core element). The binding of a transcriptional factor on an enhancer provokes a curvature of the DNA (≈75°), allowing a stabilization of the elongation complex on the ''SOX9'' promoter. The SOX9 protein activates the gene ''AMH'' (Anti-Mullerian Hormone)<ref>[http://www.ebi.ac.uk/interpro/entry/IPR006799?q=AMH EBI-Interpro: Anti-Mullerian-Hormon, N-term] </ref>. Therefore, it allows the degeneration of the channels of Müller in male. <ref>Harley VR, Clarkson MJ, Argentaro A. The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]. Endocr Rev. 2003 Aug 1;24(4):466–87 [http://press.endocrine.org/doi/10.1210/er.2002-0025?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed&]</ref>. | The activation of ''SOX''9 is done by the SRY protein and another transcriptional factor: SF1 (steroidogenic factor 1). These transcriptional factors are bound on an enhancer called: TESCO (Testis-Specific Enhancer of ''SOX9'' core element). The binding of a transcriptional factor on an enhancer provokes a curvature of the DNA (≈75°), allowing a stabilization of the elongation complex on the ''SOX9'' promoter. The SOX9 protein activates the gene ''AMH'' (Anti-Mullerian Hormone)<ref>[http://www.ebi.ac.uk/interpro/entry/IPR006799?q=AMH EBI-Interpro: Anti-Mullerian-Hormon, N-term] </ref>. Therefore, it allows the degeneration of the channels of Müller in male. <ref>Harley VR, Clarkson MJ, Argentaro A. The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]. Endocr Rev. 2003 Aug 1;24(4):466–87 [http://press.endocrine.org/doi/10.1210/er.2002-0025?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed&]</ref>. | ||
