Journal of Life Science (생명과학회지)

Korean Society of Life Science (한국생명과학회)
권호 표지
DOI QR코드

DOI QR Code

Human Y Chromosome: Structure, Function and Evolution

인간 Y 염색체: 구조, 기능 그리고 진화

  • Published : 2003.12.01
Download PDF
⟨ Previous Next ⟩

Abstract

The human Y chromosome is strictly paternally inherited and does not X-Y crossing over during male meiosis in most of its length. Although this region came to be known as the non-recombining region Y (NRY), it was renamed as male-specific region Y (MSY) due to abundant recombination. The MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerated and ampliconic. The X-transposed sequences exhibit 99% identity to the X chromosomal sequences. The X-degenerate sequences are remnants of ancient autosomes from which the modem X and Y chromosomes evolved. Eight palindromes of the ampliconic comprise one-quarter of the euchromatic DNA of the male-specific region of the human Y chromosome. They contain many testis-specific genes and typically exhibit 99.97% intra-palindromic (arm-to-arm) sequence identity. The arms of these palindromes must have subsequently engaged in gene conversion, driving the pair arms to evolve it concert. Averages of approximately 600 nucleotides per newborn male have undergone Y-Y gene conversion, which has had an important role in the evolution of multi-copy testis gene families in the MSY.

인간 Y 염색체는 엄격히 부계 유전되고 그 길이의 대부분은 남성 감수분열 동안 교차가 일어나지 않는다. 비록 이영역이 비 재조합 영역 Y (non-recombining region Y: NRY)로 불려왔지만, 풍부한 재조합의 발견으로 그것은 남성 특이 영역 (male-specific region Y: MSY)으로 재 명명(命名)되었다. MSY는 이질염색질 (heterochromatin) 서열과 세가지 분류의 진정염색질 (euchromatin) 서열 (X-전위영역, X-퇴화영역, 증폭영역)이 모자이크화 되어있다. X-전위영역의 서열은 X 염색체의 상동 좌위와 약 99% 동일성을 가진다. X-퇴화영역 서열은 고대 상 염색체가 현대의 X와 Y 염색체로 진화되면서 남아 있는 부분이다. 증폭영역의 8개의 회문구조는 인간 Y염색체의 남성 특이영역의 4분의 1을 차지한다. 이들은 많은 정소 특이 유전자를 포함하고, 회문구조서열 사이의 상동성은 약 99.97%이다. 이 회문구조의 양쪽 팔은 계속되는 유전자 교환에 의해 유지되며, 서로 협력하여 진화된다. 새로 태어나는 남성당 평균 약 600 염기당 하나가 Y-Y유전자 교환을 겪고, 정소 특이적 다중유전자군의 진화에 중요한 역할을 한다.

Keywords

References

  1. Hum. Mol. Genet. v.7 Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene Browm,G.M.;R.A.Furlong;C.A.Sargent;R.P.Erickson;G.Longepied;M.Mitchell;M.H.Jones;T.B.Hargreave;H.J.Cooke;N.A.Affara https://doi.org/10.1093/hmg/7.1.97
  2. J. Med. Genet. v.26 Deletion Yq in the sterile sone of a man with a satellited Y chromosome (Yqs) Chandley,A.C.;J.R.Gosden;T.B.Hargreave;G.Spowart;R.M.Speed;S.McBeath https://doi.org/10.1136/jmg.26.3.145
  3. Hum. Mol. Genet. v.9 Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region Ciccodicola,A.;M.DEsposito;T.Esposito;F.Gianfrancesco;C.Migliaccio;M.G.Miano;M.R.Matarazzo;M.Vacca;A.Franze;M.Cuccurese;M.Cocchia;A.Curci;A.Terrancciano;A.Torino;S.Cocchia;G.Mercadante;E.Pannone;N.Archidiacono;M.Rocchi;D.Schlessinger;M.DUrso https://doi.org/10.1093/hmg/9.3.395
  4. Lancet v.1 A sex-chromosome anomaly in a case of gonadal dysgenesis (Tuners syndrom) Ford,C.E.;O.J.Miller;P.E.Poleni;J.C.De Almeida;J.H.A.Briggs
  5. Hum. Molec. Genet. v.9 Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility Foresta,C.;A.Ferlin;E.Moro https://doi.org/10.1093/hmg/9.8.1161
  6. Science v.295 Construction and analysis of a human-chimpanzee comparative clone map Fujiyama,A.;H.Watanabe;A.Toyoda;T.D.Taylor;T.Itosh;S.F.Tsai;H.S.Park;M.L.Yaspo;H.Leharach;Z.Chen;G.Fu;N.Saitou;K.Osoegawa;P.J.de Jong;Y.Suto;M.Hattori;Y.Sakaki https://doi.org/10.1126/science.1065199
  7. Annu. Rev. Genet. v.27 SRY and sex determination in mammals Goodfellow,P.N.;R.Lovell-Badge https://doi.org/10.1146/annurev.ge.27.120193.000443
  8. Hum. Mol. Genet. v.7 The origin and evolution of the pseudoautosomal regions of human sex chromosomes Grave,J.A.M.;M.J.Wakefield;R.Toder https://doi.org/10.1093/hmg/7.13.1991
  9. Nature v.346 A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes Gubbay,J.;J.Collignon;P.Koopman;B.Capel;A.Economou;A.Munsterberg;N.Vivian;P.N.Goodfellow;R.Lovell-Badge https://doi.org/10.1038/346245a0
  10. Hum. Mutat. v.2 Mutational analysis of SRY in XY females Hawkins,J.R. https://doi.org/10.1002/humu.1380020504
  11. Hum. Reprod. v.18 Detection of sperm in men with Y chromosome michrodeletions of the AZFa, AZFb and AZFc regions Hopps,C.V.;A.Mielnik;M.Goldstein;G.D.Palermo;Z.Rosenwaks;P.N.Schlegel https://doi.org/10.1093/humrep/deg348
  12. J. Biol. Chem. v.276 The human sex-determining gene SRY is a direct target of WT1 Hossain,A.;G.F.Saunders https://doi.org/10.1074/jbc.M009056200
  13. Nature v.409 Initial sequencing and analysis of the human genome International human genome sequencing consortium https://doi.org/10.1038/35057062
  14. Nature v.183 A case of human intersexuality having a possible XXY sex determining mechanism Jocobs,P.A.;J.A.A.Strong https://doi.org/10.1038/183302a0
  15. Nature v.394 A proposed pathway by which genes common to mammalian X and Y chromosomes evolve to become X inactivated Jegalian,K.;D.C.Page https://doi.org/10.1038/29522
  16. Hum. Mol. Genet. v.5 The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2 Jones,M.H.;R.A.Furlong;H.Burkin;I.J.Chalmers;G.M.Brown;O.Khwaja;N.A.Affara https://doi.org/10.1093/hmg/5.11.1695
  17. Hum. Mol. Genet. v.9 Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events Kamp,C.;P.Hirschmann;H.Voss;K.Huellen;P.H.Vogt https://doi.org/10.1093/hmg/9.17.2563
  18. Science v.278 Functional coherence of the human Y chromosome Lahn,B.T.;D.C.Page https://doi.org/10.1126/science.278.5338.675
  19. Science v.286 Four Evolutionary Strata on the Human X chromosome Lahn,B.T.;D.C.Page https://doi.org/10.1126/science.286.5441.964
  20. Nat. Genet. v.21 Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome Lahn,B.T.;D.C.Page https://doi.org/10.1038/7771
  21. Nat. Rev. Genet. v.2 The human Y chromosome, in the light of evolution Lahn,B.T.;N.M.Pearson;K.Jegalian https://doi.org/10.1038/35056058
  22. Am. J. Hum. Genet. v.64 Sex chromosome genetics '99: gonadoblastoma, testicular and prostat cancers, and the TSPY gene Lau,Y.F.C. https://doi.org/10.1086/302353
  23. Hum. Genet. v.82 Mapping the human ZFX locus to Xp21.3 by in situ hybridization Muller,G.;W.Schempp https://doi.org/10.1007/BF00288279
  24. Sex chromosomes and sex-linked genes Ohno,S.
  25. Science v.53 The Y chromosome in mammals Painter,T.S. https://doi.org/10.1126/science.53.1378.503
  26. Cell v.51 The sex-determining region of the human Y chromosome encodes a finger protein Page,D.C.;R.Mosher;E.M.Simpson;E.M.C.Fisher;G.Mardon;J.Pollack;B.McGillivray;A. de la Chapelle;L.G.Brown https://doi.org/10.1016/0092-8674(87)90595-2
  27. Nature v.342 Genetic evidence that ZFY is not the testis-determining factor Palmer,M.S.;A.H.Sinclair;P.Berta;N.A.Ellis;P.Goodfellow;N.E.Abbas;M.Fellous https://doi.org/10.1038/342937a0
  28. Forensic Sci. Int. v.118 The human Y chromosome: function, evolution and disease Quintana-Murci,L.;C.Krausz;K.McElreavey https://doi.org/10.1016/S0379-0738(01)00387-5
  29. Nat. Genet. v.10 Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding proteine gene Reijo,R.;T.Y.Lee;P.Salo;R.Alagappan;L.G.Brown;M.Rosenberg;S.Rozen;T.Jaffe;D.Straus;O.Hovatta https://doi.org/10.1038/ng0895-383
  30. Nature v.423 Abundant gene conversion between arms of palindromes in human and ape Y chromosomes Rozen,S.;H.Skaletsky;J.D.Marszalek;P.J.Minx;H.S.Cordum;R.H.Waterson;R.K.Willson;D.C.Page https://doi.org/10.1038/nature01723
  31. Nat. Genet. v.14 The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned Saxena,R.;L.G.Brown;T.Hawkins;R.K.Alagappan;H.Skaletsky;M.P.Reeve;R.Reijo;S.Rozen;M.B.Dinulos;C.M.Disteche;D.C.Page https://doi.org/10.1038/ng1196-292
  32. Hum. Mol. Genet. v.5 Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues Schnieders,F.;T.Dork;J.Arnemann;T.Vogel;M.Werner;J.Schmidtke https://doi.org/10.1093/hmg/5.11.1801
  33. Hum. Mol. Genet. v.7 Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination Schwartz,A.;D.C.Chan;L.G.Brown;R.Alagappan;D.Pettay;C.Disteche;B.McGilivray;A. de la Chapelle;D.C.Page https://doi.org/10.1093/hmg/7.1.1
  34. Immunity v.12 Dendritic cells permit identification of genes encoding MHC class Ⅱ-restricted epitopes of transplantation antigens Scott,D.;C.Addey;P.Ellis;E.James;M.J.Mitchell;N.Saut;S.Jurcevic;E.Simpson https://doi.org/10.1016/S1074-7613(00)80221-6
  35. Nature v.336 Sequences homologous to ZFY, a candidate human sex-determining gene, are autosomal in marsupials Sinclair,A.H.;J.W.Foster;J.A.Spencer;D.C.Page;M.Palmer;P.N.Goodfellow;J.A.M.Graves https://doi.org/10.1038/336780a0
  36. Nature v.346 A gene from the human sex determining region encodes a protein with homology to a conserved DNA-binding motif Sinclair,A.H.;P.Berta;M.S.Palmer;J.R.Hawkins;B.L.Griffiths;M.J.Smith;J.W.Foster;A.M.Frischauf;R.Lovell-Badge;P.N.Goodfellow https://doi.org/10.1038/346240a0
  37. Nature v.423 The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes Skaletsky,H.;T.K.Kawaguchi;P.J.Minx;H.S.Cordum;L.Hillier;L.G.Brown;S.Repping;T.Pyntikova;J.Ali;T.Bieri;A.Chinwalla;A.Delehaunty;K.Delehaunty;H.Du;G.Fewell;L.Fulton;R.Fulton;T.Graves;S.F.Hou;P.Latrielle;S.Leonard;E.Mardis;R.Maupin;J.McPherson;T.Miner;W.Nash;C.Nguyen;P.Ozersky;K.Pepin;S.Rock;T.Rohlfing;K.Scott;B.Schultz;C.Strong;A.T.Wollam;S.P.Yang;R.H.Waterson;R.K.Wilson;S.Rozen;D.C.Page https://doi.org/10.1038/nature01722
  38. Am. J. Hum. Genet. v.9 The problem of complete Y linkage in men Stern,C.
  39. Human molecular genetics 2 Evolution of the human sex chromosomes Strachan,T.;A.P.Read
  40. Hum. Reprod. v.6 Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988-1989) Tionneau,P.;S.Marchand;A.Tallec;M.L.Ferial;B.Ducot;J.Lansac;P.Lopes;J.M.Tabaste;A.Spira
  41. Hum. Genet. v.34 Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm Tiepolo,L.;O.Zuffardi https://doi.org/10.1007/BF00278879
  42. Hum. Mol. Genet. v.5 Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 Vogt,P.H.;A.Edelmann;S.Kirsch;O.Henegariu;P.Hirschmann;F.Kiesewetter;F.M.Kohn;W.B.Schill;S.Farah;C.Ramos https://doi.org/10.1093/hmg/5.7.933
  43. Hum. Mol. Genet. v.4 The human Y chromosome homolog of XG: transcription of a naturally truncated gene Weller,P.A.;R.Critcher;P.N.Goodfellow;J.German;N.A.Ellis https://doi.org/10.1093/hmg/4.5.859
  44. Genomics v.62 Identification of novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3 Yoshida,K.;S.Sugano https://doi.org/10.1006/geno.1999.6042