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BMC genomics
Nov 14, 2013;14 792.

Analysis of Sry duplications on the Rattus norvegicus Y-chromosome.

Jeremy W Prokop, Adam C Underwood, Monte E Turner, Nic Miller, Dawn Pietrzak, Sarah Scott, Chris Smith, Amy Milsted
Author Information
  1. Amy Milsted: Department of Biology, The University of Akron, 302 Buchtel Commons, 44325-3908 Akron, OH, USA. milsted@uakron.edu.
PMID: 24228692 DOI: 10.1186/1471-2164-14-792

Abstract

BACKGROUND: Gene copy number variation plays a large role in the evolution of genomes. In Rattus norvegicus and other rodent species, the Y-chromosome has accumulated multiple copies of Sry loci. These copy number variations have been previously linked with changes in phenotype of animal models such as the spontaneously hypertensive rat (SHR). This study characterizes the Y-chromosome in the Sry region of Rattus norvegicus, while addressing functional variations seen in the Sry protein products.
RESULTS: Eleven Sry loci have been identified in the SHR with one (nonHMG Sry) containing a frame shift mutation. The nonHMGSry is found and conserved in the related WKY and SD rat strains. Three new, previously unidentified, Sry loci were identified in this study (Sry3BII, Sry4 and Sry4A) in both SHR and WKY. Repetitive element analysis revealed numerous LINE-L1 elements at regions where conservation is lost among the Sry copies. In addition we have identified a retrotransposed copy of Med14 originating from spliced mRNA, two autosomal genes (Ccdc110 and HMGB1) and a normal mammalian Y-chromosome gene (Zfy) in the Sry region of the rat Y-chromosome. Translation of the sequences of each Sry gene reveals eight proteins with amino acid differences leading to changes in nuclear localization and promoter activation of a Sry-responsive gene. Sry-β (coded by the Sry2 locus) has an increased cytoplasmic fraction due to alterations at amino acid 21. Sry-γ has altered gene regulation of the Sry1 promoter due to changes at amino acid 76.
CONCLUSIONS: The duplication of Sry on the Rattus norvegicus Y-chromosome has led to proteins with altered functional ability that may have been selected for functions in addition to testis determination. Additionally, several other genes not normally found on the Y-chromosome have duplicated new copies into the region around the Sry genes. These suggest a role of active transposable elements in the evolution of the mammalian Y-chromosome in species such as Rattus norvegicus.

References

  1. Nature. 1991 May 9;351(6322):117-21 [PMID: 2030730]
  2. J Biol Chem. 2009 May 8;284(19):12593-7 [PMID: 19126540]
  3. BMC Bioinformatics. 2012 Mar 13;13 Suppl 2:S3 [PMID: 22536866]
  4. Am J Physiol Regul Integr Comp Physiol. 2011 Sep;301(3):R561-71 [PMID: 21677270]
  5. Mol Syst Biol. 2011 Oct 11;7:539 [PMID: 21988835]
  6. J Biol Chem. 2009 Dec 18;284(51):35670-80 [PMID: 19850934]
  7. J Biol Chem. 1998 Apr 3;273(14):7988-95 [PMID: 9525897]
  8. Nat Protoc. 2010 Apr;5(4):725-38 [PMID: 20360767]
  9. J Biol Chem. 2001 Dec 7;276(49):46575-82 [PMID: 11535586]
  10. Mol Biol Evol. 2011 Oct;28(10):2731-9 [PMID: 21546353]
  11. J Biol Chem. 1997 Oct 31;272(44):27848-52 [PMID: 9346931]
  12. BMC Physiol. 2009 Jun 05;9:10 [PMID: 19500370]
  13. BMC Genet. 2007 Apr 04;8:11 [PMID: 17408480]
  14. J Mol Evol. 1997 Jul;45(1):60-5 [PMID: 9211735]
  15. FEBS Lett. 1996 Aug 5;391(1-2):24-8 [PMID: 8706923]
  16. Mol Hum Reprod. 2006 Feb;12(2):113-21 [PMID: 16510537]
  17. Proteins. 2012 Jul;80(7):1715-35 [PMID: 22411565]
  18. Biol Reprod. 2005 Feb;72(2):407-15 [PMID: 15469996]
  19. Gend Med. 2011 Apr;8(2):126-38 [PMID: 21536231]
  20. Int J Hypertens. 2012;2012:724240 [PMID: 22315667]
  21. Nucleic Acids Res. 2000 Jan 15;28(2):411-5 [PMID: 10606637]
  22. Biochem J. 2010 Aug 15;430(1):39-48 [PMID: 20528776]
  23. J Mol Biol. 2001 Sep 21;312(3):481-99 [PMID: 11563911]
  24. Proteins. 2004 Dec 1;57(4):678-83 [PMID: 15390263]
  25. Hypertension. 1993 Jun;21(6 Pt 2):1071-5 [PMID: 8505094]
  26. Mol Hum Reprod. 2008 Jun;14(6):325-30 [PMID: 18453550]
  27. Mol Endocrinol. 2005 Jul;19(7):1884-92 [PMID: 15746192]
  28. Hypertension. 2009 Feb;53(2):430-5 [PMID: 19075093]
  29. Hum Genet. 1998 Feb;102(2):213-5 [PMID: 9521592]
  30. PLoS One. 2008;3(11):e3796 [PMID: 19030103]
  31. Cytogenet Cell Genet. 1999;86(1):46-50 [PMID: 10516432]
  32. Genet Res. 1994 Dec;64(3):151-9 [PMID: 7698639]
  33. J Comput Chem. 2003 Dec;24(16):1999-2012 [PMID: 14531054]
  34. J Mol Biol. 2006 Apr 21;358(1):172-92 [PMID: 16504207]
  35. Chromosoma. 1993 Jun;102(6):389-95 [PMID: 7916665]
  36. Hypertension. 1990 Sep;16(3):277-81 [PMID: 2394486]

Grants

  1. 1R01 HL71579-01A3/NHLBI NIH HHS

MeSH Term

Animals
Base Sequence
DNA Copy Number Variations
DNA-Binding Proteins
Gene Expression Regulation
Humans
Male
Rats
Rats, Inbred SHR
Sex-Determining Region Y Protein
Testis
Y Chromosome

Chemicals

DNA-Binding Proteins
Sex-Determining Region Y Protein
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't
Article has an altmetric score of 3

Word Cloud

Created with Highcharts 10.0.0SryY-chromosomeRattusnorvegicusgenecopycopieslocichangesratSHRregionidentifiedgenesaminoacidnumberroleevolutionspeciesvariationspreviouslystudyfunctionalfoundWKYnewelementsadditionmammalianproteinspromoterduealteredBACKGROUND:GenevariationplayslargegenomesrodentaccumulatedmultiplelinkedphenotypeanimalmodelsspontaneouslyhypertensivecharacterizesaddressingseenproteinproductsRESULTS:ElevenonenonHMGcontainingframeshiftmutationnonHMGSryconservedrelatedSDstrainsThreeunidentifiedSry3BIISry4Sry4ARepetitiveelementanalysisrevealednumerousLINE-L1regionsconservationlostamongretrotransposedMed14originatingsplicedmRNAtwoautosomalCcdc110HMGB1normalZfyTranslationsequencesrevealseightdifferencesleadingnuclearlocalizationactivationSry-responsiveSry-βcodedSry2locusincreasedcytoplasmicfractionalterations21Sry-γregulationSry176CONCLUSIONS:duplicationledabilitymayselectedfunctionstestisdeterminationAdditionallyseveralnormallyduplicatedaroundsuggestactivetransposableAnalysisduplications

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