SRY protein function in sex determination: Thinking outside the box

Chromosome Research

Volumn 20, Issue 1, 2012, Pages 153-162

  Zhao, Liang ^a   Koopman, Peter ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

evolution; non HMG box domains; sex determination; SRY

Indexed keywords

TESTIS DETERMINING FACTOR;

ARTICLE; HIGH MOBILITY GROUP BOX DOMAIN; HUMAN; MAMMALIAN GENETICS; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN MOTIF; SEX DETERMINATION;

ANIMALS; DNA; DNA-BINDING PROTEINS; FEMALE; GENETIC VARIATION; GONADAL DYSGENESIS; HMG-BOX DOMAINS; HUMANS; MALE; MAMMALS; MUTATION; PROTEIN BINDING; SEX CHROMOSOMES; SEX DETERMINATION PROCESSES; SOX TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION;

MAMMALIA;

EID: 84857356129     PISSN: 09673849     EISSN: 15736849     Source Type: Journal    
DOI: 10.1007/s10577-011-9256-x     Document Type: Article

References (54)

1. JG Assumpção CE Benedetti AT Maciel-Guerra, et al. 2002 Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes J Mol Med (Berl) 80 782 790 10.1007/s00109-002-0376-9
2. L Baldazzi A Nicolettic M Gennari, et al. 2003 Two new point mutations of the SRY gene identified in two Italian 46, XY females with gonadal dysgenesis Clin Genet 64 258 260 12919143 1:STN:280:DC%2BD3szotleqtg%3D%3D 10.1034/j.1399-0004.2003.00125.x
3. DE Bergstrom M Young KH Albrecht EM Eicher 2000 Related function of mouse SOX3, SOX9, and SRY HMG domains assayed by male sex determination Genesis 28 111 124 11105052 1:CAS:528:DC%2BD3MXkvFSnug%3D%3D 10.1002/1526-968X(200011/12) 28:3/4<111::AID-GENE40>3.0.CO;2-5
4. P Bernard VR Harley 2010 Acquisition of SOX transcription factor specificity through protein-protein interaction, modulation of Wnt signalling and post-translational modification Int J Biochem Cell Biol 42 400 410 19854293 1:CAS:528:DC%2BC3cXit1Omsbk%3D 10.1016/j.biocel.2009.10.017
5. P Bernard H Sim K Knower E Vilain V Harley 2008 Human SRY inhibits β-catenin-mediated transcription Int J Biochem Cell Biol 40 2889 2900 18598779 1:CAS:528:DC%2BD1cXhtFaisbzI 10.1016/j.biocel.2008.06.006
6. J Bowles L Cooper J Berkman P Koopman 1999 Sry requires a CAG repeat domain for male sex determination in Mus musculus Nat Genet 22 405 408 10431249 1:CAS:528:DyaK1MXltVSnsr4%3D 10.1038/11981
7. J Bowles G Schepers P Koopman 2000 Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators Dev Biol 227 239 255 11071752 1:CAS:528:DC%2BD3cXnvVelu7g%3D 10.1006/dbio.2000.9883
8. N Broere J Hillesheim B Tuo, et al. 2007 Cystic fibrosis transmembrane conductance regulator activation is reduced in the small intestine of Na+/H+ exchanger 3 regulatory factor 1 (NHERF-1)- but not NHERF-2-deficient mice J Biol Chem 282 37575 37584 17947234 1:CAS:528:DC%2BD2sXhsVGjtrnE 10.1074/jbc. M704878200
9. FJ Cameron AH Sinclair 1997 Mutations in SRY and SOX9: testis-determining genes Hum Mutat 9 388 395 9143916 1:CAS:528:DyaK2sXjtlKqtrY%3D 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0
10. CA Canning R Lovell-Badge 2002 Sry and sex determination: how lazy can it be? Trends Genet 18 111 113 11858826 1:CAS:528:DC%2BD38XhtlGjurw%3D 10.1016/S0168-9525(01)02615-4
11. P Canto E de la Chesnaye M López, et al. 2000 A mutation in the 5′ non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism J Clin Endocrinol Metab 85 1908 1911 10843173 1:CAS:528:DC%2BD3cXlt1Wlsbw%3D 10.1210/jc.85.5.1908
12. M Desclozeaux F Poulat BP de Santa, et al. 1998 Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein J Biol Chem 273 7988 7995 9525897 1:CAS:528:DyaK1cXitlOitrc%3D 10.1074/jbc.273.14.7988
13. S Domenice M Yumie Nishi AE Correia Billerbeck, et al. 1998 A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives Hum Genet 102 213 215 9521592 1:CAS:528:DyaK1cXhtV2rs74%3D 10.1007/s004390050680
14. R Dubin H Ostrer 1994 Sry is a transcriptional activator Mol Endocrinol 8 1182 1192 7838151 1:STN:280:DyaK2M7ktVShsQ%3D%3D 10.1210/me.8.9.1182
15. S Ferrari VR Harley A Pontiggia, et al. 1992 SRY, like HMG1, recognizes sharp angles in DNA EMBO J 11 4497 4506 1425584 1:CAS:528:DyaK3sXpsFClsA%3D%3D
16. G Gimelli S Gimelli N Dimasi, et al. 2006 Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis Eur J Hum Genet 15 76 80 17063144 10.1038/sj.ejhg.5201719
17. JA Graves 2002 Evolution of the testis-determining gene-the rise and fall of SRY Novartis Found Symp 244 86 97 11990800 10.1002/0470868732.ch9 discussion 97-101, 203-106, 253-107
18. JA Graves 2006 Sex chromosome specialization and degeneration in mammals Cell 124 901 914 16530039 10.1016/j.cell.2006.02.024
19. VR Harley PN Goodfellow 1994 The biochemical role of SRY in sex determination Mol Reprod Dev 39 184 193 7826621 1:CAS:528:DyaK2MXht1aktbw%3D 10.1002/mrd.1080390211
20. V Harley D Jackson P Hextall, et al. 1992 DNA binding activity of recombinant SRY from normal males and XY females Science 255 453 456 1734522 1:CAS:528:DyaK38XhtVSmur8%3D 10.1126/science.1734522
21. BM Hosking SC Wang SL Chen, et al. 2001 SOX18 directly interacts with MEF2C in endothelial cells Biochem Biophys Res Commun 287 493 500 11554755 1:CAS:528:DC%2BD3MXms12rt7w%3D 10.1006/bbrc.2001.5589
22. Y Kamachi M Uchikawa H Kondoh 2000 Pairing SOX off: with partners in the regulation of embryonic development Trends Genet 16 182 187 10729834 1:CAS:528:DC%2BD3cXit1SqsbY%3D 10.1016/S0168-9525(99)01955-1
23. K Kashimada P Koopman 2010 Sry: the master switch in mammalian sex determination Development 137 3921 3930 21062860 1:CAS:528: DC%2BC3MXlsVemsw%3D%3D 10.1242/dev.048983
24. K Katoh T Miyata 1999 A heuristic approach of maximum likelihood method for inferring phylogenetic tree and an application to the mammalian SOX-3 origin of the testis-determining gene SRY FEBS Lett 463 129 132 10601652 1:CAS:528:DyaK1MXnvFems7g%3D 10.1016/S0014-5793(99)01621-X
25. H Kondoh Y Kamachi 2010 SOX-partner code for cell specification: regulatory target selection and underlying molecular mechanisms Int J Biochem Cell Biol 42 391 399 19747562 1:CAS:528:DC%2BC3cXit1Omsbg%3D 10.1016/j.biocel.2009.09.003
26. P Koopman J Gubbay N Vivian P Goodfellow R Lovell-Badge 1991 Male development of chromosomally female mice transgenic for Sry Nature 351 117 121 2030730 1:CAS:528:DyaK3MXktVagsrk%3D 10.1038/351117a0
27. Y-FC Lau Y Li 2009 The human and mouse sex-determining SRY genes repress the Rspol/β-catenin signaling J Genet Genomics 36 193 202 19376480 1:CAS:528:DC%2BD1MXlsFWkt7g%3D 10.1016/S1673-8527(08)60107-1
28. R Lovell-Badge C Canning R Sekido 2002 Sex-determining genes in mice: building pathways Novartis Found Symp 244 4 18 11990796 1:CAS:528: DC%2BD38XmvVWjsLk%3D 10.1002/0470868732.ch2 discussion 18-22, 35-42, 253-257
29. DM Maatouk L DiNapoli A Alvers, et al. 2008 Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal Hum Mol Genet 17 2949 2955 18617533 1:CAS:528:DC%2BD1cXhtFCisLzK 10.1093/hmg/ddn193
30. Y Matsuzawa-Watanabe I J-i K Semba 2003 Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1 Oncogene 22 7900 7904 12970737 10.1038/sj.onc.1206717
31. S Mertin SG McDowall VR Harley 1999 The DNA-binding specificity of SOX9 and other SOX proteins Nucleic Acids Res 27 1359 1364 9973626 1:CAS:528:DyaK1MXhslWjtL0%3D 10.1093/nar/27.5.1359
32. HJ Oh Y Li YF Lau 2005 Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein Biol Reprod 72 407 415 15469996 1:CAS:528:DC%2BD2MXptFGltA%3D%3D 10.1095/biolreprod.104.034447
33. M Pannetier G Tilly A Kocer, et al. 2006 Goat SRY induces testis development in XX transgenic mice FEBS Lett 580 3715 3720 16765952 1:CAS:528:DC%2BD28XmtVOmtbo%3D 10.1016/j.febslet.2006.05.060
34. P Parma O Radi V Vidal, et al. 2006 R-spondin1 is essential in sex determination, skin differentiation and malignancy Nat Genet 38 1304 1309 17041600 1:CAS:528:DC%2BD28XhtFeisbjF 10.1038/ng1907
35. WR Pearson T Wood Z Zhang W Miller 1997 Comparison of DNA sequences with protein sequences Genomics 46 24 36 9403055 1:CAS:528:DyaK2sXnvVCkur8%3D 10.1006/geno.1997.4995
36. Phillips NB, Racca J, Chen Y-S et al (2011) SRY and the enigma of inherited human sex reversal. Frustrated induced fit in a bent protein-DNA complex. J Biol Chem. doi: 10.1074/jbc.M111.260091
37. JC Polanco D Wilhelm H Mizusaki, et al. 2009 Functional analysis of the SRY-KRAB interaction in mouse sex determination Biol Cell 101 55 67 18588511 1:CAS:528:DC%2BD1MXivFymtLg%3D 10.1042/BC20080061
38. JC Polanco D Wilhelm T-L Davidson D Knight P Koopman 2010 Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development Hum Mol Genet 19 506 516 19933217 1:CAS:528:DC%2BC3cXotlek 10.1093/hmg/ddp520
39. F Poulat BP de Santa M Desclozeaux, et al. 1997 The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains J Biol Chem 272 7167 7172 9054412 1:CAS:528:DyaK2sXhvFKisLk%3D 10.1074/jbc.272.11.7167
40. I Sánchez-Moreno R Coral-Vázquez JP Méndez P Canto 2008 Full-length SRY protein is essential for DNA binding Mol Hum Reprod 14 325 330 18453550 10.1093/molehr/gan021
41. I Sánchez-Moreno P Canto P Munguía, et al. 2009 DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis Mol Cell Endocrinol 299 212 218 19007850 10.1016/j.mce.2008.10.012
42. Y Sato T Shinka K Sakamoto A Ewis Y Nakahori 2010 The male-determining gene SRY is a hybrid of DGCR8 and SOX3, and is regulated by the transcription factor CP2 Mol Cell Biochem 337 267 275 19902333 1:CAS:528:DC%2BC3cXjtVCltr4%3D 10.1007/s11010-009-0308-x
43. R Sekido R Lovell-Badge 2008 Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer Nature 453 930 934 18454134 1:CAS:528:DC%2BD1cXntVCqtbc%3D 10.1038/nature06944
44. R Sekido R Lovell-Badge 2009 Sex determination and SRY: down to a wink and a nudge? Trends Genet 25 19 29 19027189 1:CAS:528:DC%2BD1MXosVSktw%3D%3D 10.1016/j.tig.2008.10.008
45. M Shahid VS Dhillion N Jain, et al. 2004 Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46, XY females with sex reversal and gonadal tumour formation Mol Hum Reprod 10 521 526 15155818 1:CAS:528:DC%2BD2cXltVWns7g%3D 10.1093/molehr/gah071
46. M Shahid VS Dhillon M Aslam SA Husain 2005 Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome J Clin Endocrinol Metab 90 2429 2435 15687343 1:CAS:528:DC%2BD2MXjsFWis7k%3D 10.1210/jc.2004-1110
47. H Sim A Argentaro VR Harley 2008 Boys, girls and shuttling of SRY and SOX9 Trends Endocrinol Metab 19 213 222 18585925 1:CAS:528:DC%2BD1cXoslWmsL0%3D 10.1016/j.tem.2008.04.002
48. E Sutton J Hughes S White, et al. 2011 Identification of SOX3 as an XX male sex reversal gene in mice and humans J Clin Invest 121 328 341 21183788 1:CAS:528:DC%2BC3MXis1ylsA%3D%3D 10.1172/JCI42580
49. T Tajima J Nakae N Shinohara K Fujieda 1994 A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis Hum Mol Genet 3 1187 1189 7981695 1:CAS:528:DyaK2cXltlWlsLc%3D 10.1093/hmg/3.7.1187
50. DA Tamashiro VB Alarcón Y Marikawa 2008 Ectopic expression of mouse Sry interferes with Wnt/β-catenin signaling in mouse embryonal carcinoma cell lines Biochim Biophys Acta 1780 1395 1402 18675318 1:CAS:528:DC%2BD1cXhtFOlu7fO 10.1016/j.bbagen.2008.07.001
51. L Thevenet KH Albrecht S Malki, et al. 2005 NHERF2/SIP-1 interacts with mouse SRY via a different mechanism than human SRY J Biol Chem 280 38625 38630 16166090 1:CAS:528:DC%2BD2MXht1SktLvK 10.1074/jbc.M504127200
52. S Vainio M Heikkila A Kispert N Chin AP McMahon 1999 Female development in mammals is regulated by Wnt-4 signalling Nature 397 405 409 9989404 1:CAS:528:DyaK1MXhtFOjs70%3D 10.1038/17068
53. D Wilhelm S Palmer P Koopman 2007 Sex determination and gonadal development in mammals Physiol Rev 87 1 28 17237341 1:CAS:528: DC%2BD2sXitVahu7o%3D 10.1152/physrev.00009.2006
54. M Wilson P Koopman 2002 Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators Curr Opin Genet Dev 12 441 446 12100890 1:CAS:528:DC%2BD38XkvF2isbc%3D 10.1016/S0959-437X(02)00323-4