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A comparative analysis of the pig, mouse, and human PCDHX genes

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Abstract

Protocadherin X and Y (PCDHX/Y) represent a pair of homologous genes located on the human sex chromosomes that are primarily expressed in the brain. PCDHY emerged as a result of a duplicative transposition from the X Chromosome (Chr) and is present on the Y only in hominids. Previous zoo-blot analysis suggested the existence of PCDHX orthologs on the X Chr of several mammalian species. This paper reports the cloning and characterization of porcine and murine Pcdhx. Pig Pcdhx cDNA was obtained by a combination of RT-PCR, SMART-RACE, and genomic sequencing and exhibits 88% identity to human PCDHX; FISH analysis indicated that porcine Pcdhx maps to Xq. Mouse Pcdhx cDNA was assembled by RT-PCR and database analysis and is 84% identical to the human gene. Some degree of alternative splicing was detected in pig Pcdhx, but not to the extent previously described in humans. Both murine and porcine Pcdhx mRNA were detected in all tissues studied. Cloning of 2.5 kb of genomic sequence upstream of the most 5′ exon of porcine Pcdhx allowed a comparative analysis with murine and human sequences in order to define potential promoter elements. All exons present in mouse and pig transcripts were found to have homologous sequences in human DNA. Not all of these exons are represented in human transcripts, indicating differential evolution and usage. The increased complexity in post-transcriptional processing and restriction of expression of the human genes primarily to central nervous system tissue as compared with pig and mouse suggests that PCDHX/Y is potentially a good candidate to account for human-specific features of the CNS.

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References

  1. SF Altschul W Gish W Miller EW Myers DJ Lipman (1990) ArticleTitleBasic local alignment search tool. J Mol Biol 215 403–410

    Google Scholar 

  2. P Blanco CA Sargent CA Boucher M Mitchell NA Affara (2000) ArticleTitleConservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain. Mamm Genome 11 906–914

    Google Scholar 

  3. P Blanco CA Sargent CA Boucher G Howell M Ross al. et (2001) ArticleTitleA novel poly(A)-binding protein gene (PABPC5) maps to an X-specific subinterval in the Xq21.3/Yp11.2 homology block of the human sex chromosomes. Genomics 74 1–11

    Google Scholar 

  4. P Blanco-Arias CA Sargent NA Affara (2002) ArticleTitleThe human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposon. Mamm Genome 13 463–468

    Google Scholar 

  5. P Blanco-Arias CA Sargent NA Affara (2004) ArticleTitleProtocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains. Mamm Genome 15 41–52

    Google Scholar 

  6. C Bonny LA Cooker E Goldberg (1998) ArticleTitleDeoxyribonucleic acid-protein interactions and expression of the human testis-specific lactate dehydrogenase promoter: transcription factor Sp1 plays a major role. Biol Reprod 58 754–759

    Google Scholar 

  7. D Bunick PA Johnson TR Johnson NB Hecht (1990) ArticleTitleTranscription of the testis-specific mouse protamine 2 gene in a homologous in vitro transcription system. Proc Natl Acad Sci USA 87 891–895

    Google Scholar 

  8. J Chae MJ Kim JH Goo S Collier D Gubb et al. (1999) ArticleTitleThe Drosophila tissue polarity gene starry night encodes a member of the protocadherin family. Development 126 5421–5429

    Google Scholar 

  9. TJ Crow (2000) ArticleTitleSchizophrenia as the price that Homo sapiens pays for language: a resolution of the central paradox in the origin of the species. Brain Res Brain Res Rev 31 118–129 Occurrence Handle10.1016/S0165-0173(99)00029-6 Occurrence Handle1:STN:280:DC%2BD3c7osFCrtQ%3D%3D Occurrence Handle10719140

    Article  CAS  PubMed  Google Scholar 

  10. WJ Dominey (1984) Effects of sexual selection and life histories on speciation: species flocks in African cichlids and Hawaiian Drosophila. A. A. Dominey (Eds) Evolution of Fish Species Flocks Orino Press Maine 231–249

    Google Scholar 

  11. JA Graves (1995) ArticleTitleThe origin and function of the mammalian Y chromosome and Y-borne genes—an evolving understanding. Bioessays 17 311–320 Occurrence Handle1:STN:280:ByqB28%2Fjt1Y%3D Occurrence Handle7741724

    CAS  PubMed  Google Scholar 

  12. RC Iannello HH Dahl (1992) ArticleTitleTranscriptional expression of a testis-specific variant of the mouse pyruvate dehydrogenase E1 alpha subunit. Biol Reprod 47 48–58 Occurrence Handle1:CAS:528:DyaK38XkvVCmtL0%3D Occurrence Handle1637947

    CAS  PubMed  Google Scholar 

  13. KY Kaneshiro CRB Boake (1987) ArticleTitleSexual selection: issues raised by Hawaiian Drosophila. Trends Ecol Evol 2 207–211 Occurrence Handle10.1016/0169-5347(87)90022-X

    Article  Google Scholar 

  14. RC Lee TR Clandinin CH Lee PL Chen IA Meinertzhagen et al. (2003) ArticleTitleThe protocadherin Flamingo is required for axon target selection in the Drosophila visual system. Nat Neurosci May 18 .–.

    Google Scholar 

  15. KR McKaye (1991) Sexual sedection and the evolution of Lake Malawi, Africa. M Keenlyside (Eds) Behaviour Ecology and Evolution of Cicchild Fishes. Chapman and Hall London 241–257

    Google Scholar 

  16. B Modrek CJ Lee (2003) ArticleTitleAlternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and or/loss. Nat Genet 34 177–180 Occurrence Handle10.1038/ng1159 Occurrence Handle1:CAS:528:DC%2BD3sXktFSlt78%3D Occurrence Handle12730695

    Article  CAS  PubMed  Google Scholar 

  17. S Mumm B Molini J Terrell A Srivastava D Schlessinger (1997) ArticleTitleEvolutionary features of the 4-Mb Xq21. Genome Res 7 307–314 Occurrence Handle1:CAS:528:DyaK2sXis1Shtb0%3D Occurrence Handle9110170

    CAS  PubMed  Google Scholar 

  18. C Redies (2000) ArticleTitleCadherins in the central nervous system. Prog Neurobiol 61 611–648 Occurrence Handle1:CAS:528:DC%2BD3cXkvVWjtL4%3D Occurrence Handle10775799

    CAS  PubMed  Google Scholar 

  19. CA Sargent H Briggs IJ Chalmers B Lambson E Walker et al. (1996) ArticleTitleThe sequence organization of Yp/proximal Xq homologous regions of the human sex chromosomes is highly conserved. Genomics 32 200–209 Occurrence Handle10.1006/geno.1996.0106 Occurrence Handle1:CAS:528:DyaK28XhslGqtLg%3D Occurrence Handle8833146

    Article  CAS  PubMed  Google Scholar 

  20. A Schwartz DC Chan LG Brown R Alagappan D Pettay et al. (1998) ArticleTitleReconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. Hum Mol Genet 7 1–11 Occurrence Handle10.1093/hmg/7.1.1 Occurrence Handle1:CAS:528:DyaK1cXotVOrtw%3D%3D Occurrence Handle9384598

    Article  CAS  PubMed  Google Scholar 

  21. TA Tatusova TL Madden (1999) ArticleTitleBLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 174 247–250 Occurrence Handle1:CAS:528:DyaK1MXjtlOlu74%3D Occurrence Handle10339815

    CAS  PubMed  Google Scholar 

  22. K Yoshida S Sugano (1999) ArticleTitleIdentification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3. Genomics 62 540–543

    Google Scholar 

  23. LP Zhang J Stroud CA Eddy CA Walter JR McCarrey (1999) ArticleTitleMultiple elements influence transcriptional regulation from the human testis-specific PGK2 promoter in transgenic mice. Biol Reprod 60 1329–1337 Occurrence Handle1:CAS:528:DyaK1MXjsVejsLY%3D Occurrence Handle10330089

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Human Molecular Genetics Group, Division of Cellular and Molecular Pathology, University of Cambridge, Department of Pathology, Tennis Court Road, Cambridge CB2 1QP, UK

    Patricia Blanco-Arias, Carole A. Sargent & Nabeel A. Affara

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  1. Patricia Blanco-Arias
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  2. Carole A. Sargent
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  3. Nabeel A. Affara
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Correspondence to Nabeel A. Affara.

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Blanco-Arias, P., Sargent, C.A. & Affara, N.A. A comparative analysis of the pig, mouse, and human PCDHX genes . Mamm Genome 15, 296–306 (2004). https://doi.org/10.1007/s00335-003-3034-9

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  • DOI: https://doi.org/10.1007/s00335-003-3034-9

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