Distribución de las realizaciones en posición de ataque complejo

Individuals with XY genotype and functional SRY gene can have an outwardly female phenotype due to an underlying androgen insensitivity syndrome (AIS). SRY is essential for maleness. Loss of the SRY gene from the Y chromosome result in XY individuals, normally male, having female characteristics (Swyer syndrome).

SRY has been linked to the fact that men are more likely than women to develop dopamine-related diseases such as schizophrenia and Parkinson's disease. SRY makes a protein that controls concentrations of dopamine, the neurotransmitter that carries signals from the brain that control movement and coordination.[45]

Evolution

SRY may have arisen from a gene duplication of the X chromosome bound gene SOX3, a member of the Sox family.[46] This duplication occurred after the split between monotremes and therians. Monotremes lack SRY and have a ZW-like sex determination system, likely involving DMRT1, whereas therians (marsupials and placental mammals) use the XY sex determination system.[47] SRY is a rapidly evolving gene.[48] A small number of mammals lack this gene entirely and use an alternative form of sex determination.[]

Interactions

SRY has been shown to interact with the androgen receptor.[]

References

[1] http://www.ebi.ac.uk/pdbe/searchResults.html?display=both&

term=A7WPU8%20or%20Q05066%20or%20Q28798%20or%20F2YKT8%20or%20Q03255%20or%20B6S2A2 [2] http://www.rcsb.org/pdb/search/smartSubquery.do?smartSearchSubtype=UpAccessionIdQuery&

accessionIdList=A7WPU8,Q05066,Q28798,F2YKT8,Q03255,B6S2A2 [3] http://www.rcsb.org/pdb/cgi/explore.cgi?pdbId=1HRY

[4] http://www.rcsb.org/pdb/cgi/explore.cgi?pdbId=1HRZ [5] http://www.rcsb.org/pdb/cgi/explore.cgi?pdbId=1J46 [6] http://www.rcsb.org/pdb/cgi/explore.cgi?pdbId=1J47

[7] http://www.genenames.org/data/hgnc_data.php?hgnc_id=11311 [8] http://omim.org/entry/480000

[9] http://www.informatics.jax.org/searches/accession_report.cgi?id=MGI:98660

[10] http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=homologene&dopt=HomoloGene&list_uids=48168 [11] http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6736

[12] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0003677 [13] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0003705 [14] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0005515 [15] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0005516 [16] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0008134 [17] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0005634 [18] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0005737 [19] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0016607 [20] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0043231 [21] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0007548 [22] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0030154 [23] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0030238 [24] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:0045893 [25] http://amigo.geneontology.org/cgi-bin/amigo/go.cgi?view=details&search_constraint=terms&depth=0&query=GO:2000020 [26] http://amigo.geneontology.org/cgi-bin/amigo/gp-assoc.cgi?gp=UniProtKB:Q05066

[27] http://www.ebi.ac.uk/QuickGO/GProtein?ac=Q05066 [28] http://biogps.org/gene/6736/

[29] http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=6736&rn=1 [30] http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=21674&rn=1 [31] http://www.ensembl.org/Homo_sapiens/geneview?gene=ENSG00000184895;db=core

[32] http://www.ensembl.org/Mus_musculus/geneview?gene=ENSMUSG00000069036;db=core [33] http://www.uniprot.org/uniprot/Q05066

[34] http://www.uniprot.org/uniprot/Q2T9H0

[35] http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_003140 [36] http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_011564 [37] http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_003131 [38] http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_035694

[39] http://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg19&position=chrY:2654896-2655740 [40] http://genome.ucsc.edu/cgi-bin/hgTracks?org=Mouse&db=mm9&position=chrY:1947341-1948528 [41] http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=6736 [42] http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=21674

Further reading

• Haqq CM, King CY, Ukiyama E et al. (1995). "Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY". Science 266 (5190): 1494–500. doi:

10.1126/science.7985018 (http://dx.doi.org/10.1126/science.7985018). PMID  7985018 (http://www.ncbi.

nlm.nih.gov/pubmed/7985018).

• Goodfellow PN, Lovell-Badge R (1994). "SRY and sex determination in mammals". Annu. Rev. Genet. 27:

71–92. doi: 10.1146/annurev.ge.27.120193.000443 (http://dx.doi.org/10.1146/annurev.ge.27.120193.

000443). PMID  8122913 (http://www.ncbi.nlm.nih.gov/pubmed/8122913).

• Hawkins JR (1994). "Mutational analysis of SRY in XY females". Hum. Mutat. 2 (5): 347–50. doi:

10.1002/humu.1380020504 (http://dx.doi.org/10.1002/humu.1380020504). PMID  8257986 (http://www.

ncbi.nlm.nih.gov/pubmed/8257986).

• Harley VR (2002). "The molecular action of testis-determining factors SRY and SOX9". Novartis Found. Symp.

Novartis Foundation Symposia 244: 57–66; discussion 66–7, 79–85, 253–7. doi: 10.1002/0470868732.ch6 (http:/

/dx.doi.org/10.1002/0470868732.ch6). ISBN 978-0-470-86873-7. PMID  11990798 (http://www.ncbi.nlm.

nih.gov/pubmed/11990798).

• Jordan BK, Vilain E (2003). "Sry and the genetics of sex determination". Adv. Exp. Med. Biol. 511: 1–13;

discussion 13–4. PMID  12575752 (http://www.ncbi.nlm.nih.gov/pubmed/12575752).

• Oh HJ, Lau YF (2006). "KRAB: a partner for SRY action on chromatin". Mol. Cell. Endocrinol. 247 (1–2):

47–52. doi: 10.1016/j.mce.2005.12.011 (http://dx.doi.org/10.1016/j.mce.2005.12.011). PMID  16414182 (http://www.ncbi.nlm.nih.gov/pubmed/16414182).

• Polanco JC, Koopman P (2007). "Sry and the hesitant beginnings of male development". Dev. Biol. 302 (1):

13–24. doi: 10.1016/j.ydbio.2006.08.049 (http://dx.doi.org/10.1016/j.ydbio.2006.08.049). PMID  16996051 (http://www.ncbi.nlm.nih.gov/pubmed/16996051).

• Hawkins JR, Taylor A, Berta P et al. (1992). "Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal". Hum. Genet. 88 (4): 471–4. doi: 10.1007/BF00215684 (http://dx.doi.org/10.1007/

BF00215684). PMID  1339396 (http://www.ncbi.nlm.nih.gov/pubmed/1339396).

• Hawkins JR, Taylor A, Goodfellow PN et al. (1992). "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis" (http://www.ncbi.nlm.nih.gov/pmc/articles/

PMC1682856). Am. J. Hum. Genet. 51 (5): 979–84. PMC  1682856 (http://www.ncbi.nlm.nih.gov/pmc/

articles/PMC1682856). PMID  1415266 (http://www.ncbi.nlm.nih.gov/pubmed/1415266).

• Ferrari S, Harley VR, Pontiggia A et al. (1992). "SRY, like HMG1, recognizes sharp angles in DNA" (http:// www.ncbi.nlm.nih.gov/pmc/articles/PMC557025). EMBO J. 11 (12): 4497–506. PMC  557025 (http:// www.ncbi.nlm.nih.gov/pmc/articles/PMC557025). PMID  1425584 (http://www.ncbi.nlm.nih.gov/

pubmed/1425584).

• Jäger RJ, Harley VR, Pfeiffer RA et al. (1993). "A familial mutation in the testis-determining gene SRY shared by both sexes". Hum. Genet. 90 (4): 350–5. PMID  1483689 (http://www.ncbi.nlm.nih.gov/pubmed/

1483689).

• Vilain E, McElreavey K, Jaubert F et al. (1992). "Familial case with sequence variant in the testis-determining region associated with two sex phenotypes" (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682588). Am.

J. Hum. Genet. 50 (5): 1008–11. PMC  1682588 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682588).

PMID  1570829 (http://www.ncbi.nlm.nih.gov/pubmed/1570829).

• Müller J, Schwartz M, Skakkebaek NE (1992). "Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female". J. Clin.

Endocrinol. Metab. 75 (1): 331–3. doi: 10.1210/jc.75.1.331 (http://dx.doi.org/10.1210/jc.75.1.331). PMID  1619028 (http://www.ncbi.nlm.nih.gov/pubmed/1619028).

• McElreavey KD, Vilain E, Boucekkine C et al. (1992). "XY sex reversal associated with a nonsense mutation in SRY". Genomics 13 (3): 838–40. doi: 10.1016/0888-7543(92)90164-N (http://dx.doi.org/10.1016/

0888-7543(92)90164-N). PMID  1639410 (http://www.ncbi.nlm.nih.gov/pubmed/1639410).

• Sinclair AH, Berta P, Palmer MS et al. (1990). "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif". Nature 346 (6281): 240–4. doi: 10.1038/346240a0 (http:// dx.doi.org/10.1038/346240a0). PMID  1695712 (http://www.ncbi.nlm.nih.gov/pubmed/1695712).

• Berkovitz GD, Fechner PY, Zacur HW et al. (1991). "Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation". Medicine (Baltimore) 70 (6): 375–83.

PMID  1956279 (http://www.ncbi.nlm.nih.gov/pubmed/1956279).

• Berta P, Hawkins JR, Sinclair AH et al. (1990). "Genetic evidence equating SRY and the testis-determining factor". Nature 348 (6300): 448–50. doi: 10.1038/348448A0 (http://dx.doi.org/10.1038/348448A0). PMID  2247149 (http://www.ncbi.nlm.nih.gov/pubmed/2247149).

• Jäger RJ, Anvret M, Hall K, Scherer G (1991). "A human XY female with a frame shift mutation in the candidate testis-determining gene SRY". Nature 348 (6300): 452–4. doi: 10.1038/348452a0 (http://dx.doi.org/10.1038/

348452a0). PMID  2247151 (http://www.ncbi.nlm.nih.gov/pubmed/2247151).

• Ellis NA, Goodfellow PJ, Pym B et al. (1989). "The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome". Nature 337 (6202): 81–4. doi: 10.1038/337081a0 (http://dx.

doi.org/10.1038/337081a0). PMID  2909893 (http://www.ncbi.nlm.nih.gov/pubmed/2909893).

• Whitfield LS, Hawkins TL, Goodfellow PN, Sulston J (1995). "41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome". Genomics 27 (2):

306–11. doi: 10.1006/geno.1995.1047 (http://dx.doi.org/10.1006/geno.1995.1047). PMID  7557997 (http:// www.ncbi.nlm.nih.gov/pubmed/7557997).

External links

• GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development (http://www.ncbi.nlm.

nih.gov/books/NBK1416/)

• OMIM entries on 46,XX Testicular Disorder of Sex Development (http://www.ncbi.nlm.nih.gov/omim/

278850,480000,278850,480000)

• Genes, sry (http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?mode=&term=Genes,+sry) at the US National Library of Medicine Medical Subject Headings (MeSH)

• Sex-Determining Region Y Protein (http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?mode=&

term=Sex-Determining+Region+Y+Protein) at the US National Library of Medicine Medical Subject Headings (MeSH)