메뉴 건너뛰기




Volumn 9, Issue 7, 2013, Pages

Recombination Dynamics of a Human Y-Chromosomal Palindrome: Rapid GC-Biased Gene Conversion, Multi-kilobase Conversion Tracts, and Rare Inversions

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME INVERSION; CROSSING OVER; DNA BASE COMPOSITION; DNA RECOMBINATION; DNA SEQUENCE; GENE CONVERSION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INVERTED REPEAT; MALE; MOLECULAR EVOLUTION; PALINDROME; PARALOGOUS SEQUENCE VARIANT; PHYLOGENY; POLYMERASE CHAIN REACTION; SPECIES COMPARISON; Y CHROMOSOME;

EID: 84880791646     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003666     Document Type: Article
Times cited : (49)

References (49)
  • 1
    • 0037967242 scopus 로고    scopus 로고
    • The male-specific region of the human Y chromosome: a mosaic of discrete sequence classes
    • Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, et al. (2003) The male-specific region of the human Y chromosome: a mosaic of discrete sequence classes. Nature 423: 825-837.
    • (2003) Nature , vol.423 , pp. 825-837
    • Skaletsky, H.1    Kuroda-Kawaguchi, T.2    Minx, P.J.3    Cordum, H.S.4    Hillier, L.5
  • 2
    • 0037967231 scopus 로고    scopus 로고
    • Abundant gene conversion between arms of massive palindromes in human and ape Y chromosomes
    • Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, et al. (2003) Abundant gene conversion between arms of massive palindromes in human and ape Y chromosomes. Nature 423: 873-876.
    • (2003) Nature , vol.423 , pp. 873-876
    • Rozen, S.1    Skaletsky, H.2    Marszalek, J.D.3    Minx, P.J.4    Cordum, H.S.5
  • 3
    • 84862777341 scopus 로고    scopus 로고
    • Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes
    • Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T, et al. (2012) Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature 483: 82-86.
    • (2012) Nature , vol.483 , pp. 82-86
    • Hughes, J.F.1    Skaletsky, H.2    Brown, L.G.3    Pyntikova, T.4    Graves, T.5
  • 4
    • 65949106664 scopus 로고    scopus 로고
    • Cambridge, Massachusetts: Massachusetts Institute of Technology
    • Alföldi JE (2008) Sequence of the mouse Y chromosome. Cambridge, Massachusetts: Massachusetts Institute of Technology.
    • (2008) Sequence of the mouse Y chromosome
    • Alföldi, J.E.1
  • 5
    • 77958130032 scopus 로고    scopus 로고
    • Extensive gene conversion drives the concerted evolution of paralogous copies of the SRY gene in European rabbits
    • Geraldes A, Rambo T, Wing RA, Ferrand N, Nachman MW, (2010) Extensive gene conversion drives the concerted evolution of paralogous copies of the SRY gene in European rabbits. Mol Biol Evol 27: 2437-2440.
    • (2010) Mol Biol Evol , vol.27 , pp. 2437-2440
    • Geraldes, A.1    Rambo, T.2    Wing, R.A.3    Ferrand, N.4    Nachman, M.W.5
  • 6
    • 24744446039 scopus 로고    scopus 로고
    • Gene conversion drives the evolution of HINTW, an ampliconic gene on the female-specific avian W chromosome
    • Backström N, Ceplitis H, Berlin S, Ellegren H, (2005) Gene conversion drives the evolution of HINTW, an ampliconic gene on the female-specific avian W chromosome. Mol Biol Evol 22: 1992-1999.
    • (2005) Mol Biol Evol , vol.22 , pp. 1992-1999
    • Backström, N.1    Ceplitis, H.2    Berlin, S.3    Ellegren, H.4
  • 7
    • 77956913111 scopus 로고    scopus 로고
    • A W-linked palindrome and gene conversion in New World sparrows and blackbirds
    • Davis JK, Thomas PJ, Thomas JW, (2010) A W-linked palindrome and gene conversion in New World sparrows and blackbirds. Chromosome Res 18: 543-553.
    • (2010) Chromosome Res , vol.18 , pp. 543-553
    • Davis, J.K.1    Thomas, P.J.2    Thomas, J.W.3
  • 8
    • 79959425216 scopus 로고    scopus 로고
    • A large palindrome with interchromosomal gene duplications in the pericentromeric region of the D. melanogaster Y chromosome
    • Mendez-Lago M, Bergman CM, de Pablos B, Tracey A, Whitehead SL, et al. (2011) A large palindrome with interchromosomal gene duplications in the pericentromeric region of the D. melanogaster Y chromosome. Mol Biol Evol 28: 1967-1971.
    • (2011) Mol Biol Evol , vol.28 , pp. 1967-1971
    • Mendez-Lago, M.1    Bergman, C.M.2    de Pablos, B.3    Tracey, A.4    Whitehead, S.L.5
  • 9
    • 6344289639 scopus 로고    scopus 로고
    • Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes
    • Warburton PE, Giordano J, Cheung F, Gelfand Y, Benson G, (2004) Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes. Genome Res 14: 1861-1869.
    • (2004) Genome Res , vol.14 , pp. 1861-1869
    • Warburton, P.E.1    Giordano, J.2    Cheung, F.3    Gelfand, Y.4    Benson, G.5
  • 10
    • 14644420971 scopus 로고    scopus 로고
    • Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A
    • Bagnall RD, Ayres KL, Green PM, Giannelli F, (2005) Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A. Genome Res 15: 214-223.
    • (2005) Genome Res , vol.15 , pp. 214-223
    • Bagnall, R.D.1    Ayres, K.L.2    Green, P.M.3    Giannelli, F.4
  • 11
    • 78751662246 scopus 로고    scopus 로고
    • Gene duplication, gene conversion and the evolution of the Y chromosome
    • Connallon T, Clark AG, (2010) Gene duplication, gene conversion and the evolution of the Y chromosome. Genetics 186: 277-286.
    • (2010) Genetics , vol.186 , pp. 277-286
    • Connallon, T.1    Clark, A.G.2
  • 12
    • 77958479780 scopus 로고    scopus 로고
    • Can intra-Y gene conversion oppose the degeneration of the human Y chromosome? A simulation study
    • Marais GA, Campos PR, Gordo I, (2010) Can intra-Y gene conversion oppose the degeneration of the human Y chromosome? A simulation study. Genome Biol Evol 2: 347-357.
    • (2010) Genome Biol Evol , vol.2 , pp. 347-357
    • Marais, G.A.1    Campos, P.R.2    Gordo, I.3
  • 13
    • 43149087535 scopus 로고    scopus 로고
    • New binary polymorphisms reshape and increase resolution of the human Y-chromosomal haplogroup tree
    • Karafet TM, Mendez FL, Meilerman M, Underhill PA, Zegura SL, et al. (2008) New binary polymorphisms reshape and increase resolution of the human Y-chromosomal haplogroup tree. Genome Res 18: 830-838.
    • (2008) Genome Res , vol.18 , pp. 830-838
    • Karafet, T.M.1    Mendez, F.L.2    Meilerman, M.3    Underhill, P.A.4    Zegura, S.L.5
  • 14
    • 69949140292 scopus 로고    scopus 로고
    • Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree
    • Xue Y, Wang Q, Long Q, Ng BL, Swerdlow H, et al. (2009) Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol 19: 1453-1457.
    • (2009) Curr Biol , vol.19 , pp. 1453-1457
    • Xue, Y.1    Wang, Q.2    Long, Q.3    Ng, B.L.4    Swerdlow, H.5
  • 16
    • 74549133571 scopus 로고    scopus 로고
    • A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations
    • Shi W, Ayub Q, Vermeulen M, Shao RG, Zuniga S, et al. (2010) A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations. Mol Biol Evol 27: 385-393.
    • (2010) Mol Biol Evol , vol.27 , pp. 385-393
    • Shi, W.1    Ayub, Q.2    Vermeulen, M.3    Shao, R.G.4    Zuniga, S.5
  • 17
    • 31544467616 scopus 로고    scopus 로고
    • Polarity and temporality of high-resolution Y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists
    • Sengupta S, Zhivotovsky LA, King R, Mehdi SQ, Edmonds CA, et al. (2006) Polarity and temporality of high-resolution Y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists. Am J Hum Genet 78: 202-221.
    • (2006) Am J Hum Genet , vol.78 , pp. 202-221
    • Sengupta, S.1    Zhivotovsky, L.A.2    King, R.3    Mehdi, S.Q.4    Edmonds, C.A.5
  • 18
    • 39749181521 scopus 로고    scopus 로고
    • Worldwide human relationships inferred from genome-wide patterns of variation
    • Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, et al. (2008) Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104.
    • (2008) Science , vol.319 , pp. 1100-1104
    • Li, J.Z.1    Absher, D.M.2    Tang, H.3    Southwick, A.M.4    Casto, A.M.5
  • 19
    • 75749129731 scopus 로고    scopus 로고
    • Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content
    • Hughes JF, Skaletsky H, Pyntikova T, Graves TA, van Daalen SK, et al. (2010) Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature 463: 536-539.
    • (2010) Nature , vol.463 , pp. 536-539
    • Hughes, J.F.1    Skaletsky, H.2    Pyntikova, T.3    Graves, T.A.4    van Daalen, S.K.5
  • 20
    • 84863230553 scopus 로고    scopus 로고
    • Insights into hominid evolution from the gorilla genome sequence
    • Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, et al. (2012) Insights into hominid evolution from the gorilla genome sequence. Nature 483: 169-175.
    • (2012) Nature , vol.483 , pp. 169-175
    • Scally, A.1    Dutheil, J.Y.2    Hillier, L.W.3    Jordan, G.E.4    Goodhead, I.5
  • 21
    • 0038543069 scopus 로고    scopus 로고
    • Biased gene conversion: implications for genome and sex evolution
    • Marais G, (2003) Biased gene conversion: implications for genome and sex evolution. Trends Genet 19: 330-338.
    • (2003) Trends Genet , vol.19 , pp. 330-338
    • Marais, G.1
  • 23
    • 84862899535 scopus 로고    scopus 로고
    • Nonallelic gene conversion is not GC-biased in Drosophila or primates
    • Assis R, Kondrashov AS, (2012) Nonallelic gene conversion is not GC-biased in Drosophila or primates. Mol Biol Evol 29: 1291-1295.
    • (2012) Mol Biol Evol , vol.29 , pp. 1291-1295
    • Assis, R.1    Kondrashov, A.S.2
  • 24
    • 32944464614 scopus 로고    scopus 로고
    • The case of the unreliable SNP: recurrent back-mutation of Y-chromosomal marker P25 through gene conversion
    • Adams SM, King TE, Bosch E, Jobling MA, (2006) The case of the unreliable SNP: recurrent back-mutation of Y-chromosomal marker P25 through gene conversion. Forensic Sci Int 159: 14-20.
    • (2006) Forensic Sci Int , vol.159 , pp. 14-20
    • Adams, S.M.1    King, T.E.2    Bosch, E.3    Jobling, M.A.4
  • 25
    • 2442690342 scopus 로고    scopus 로고
    • Dynamics of a human interparalog gene conversion hotspot
    • Bosch E, Hurles ME, Navarro A, Jobling MA, (2004) Dynamics of a human interparalog gene conversion hotspot. Genome Res 14: 835-844.
    • (2004) Genome Res , vol.14 , pp. 835-844
    • Bosch, E.1    Hurles, M.E.2    Navarro, A.3    Jobling, M.A.4
  • 26
    • 0031924630 scopus 로고    scopus 로고
    • Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization
    • Bouzekri N, Taylor PG, Hammer MF, Jobling MA, (1998) Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization. Hum Mol Genet 7: 655-659.
    • (1998) Hum Mol Genet , vol.7 , pp. 655-659
    • Bouzekri, N.1    Taylor, P.G.2    Hammer, M.F.3    Jobling, M.A.4
  • 28
    • 67649628996 scopus 로고    scopus 로고
    • Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot
    • Rosser ZH, Balaresque P, Jobling MA, (2009) Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot. Am J Hum Genet 85: 130-134.
    • (2009) Am J Hum Genet , vol.85 , pp. 130-134
    • Rosser, Z.H.1    Balaresque, P.2    Jobling, M.A.3
  • 29
    • 77954780004 scopus 로고    scopus 로고
    • Frequent gene conversion events between the X and Y homologous chromosomal regions in primates
    • Iwase M, Satta Y, Hirai H, Hirai Y, Takahata N, (2010) Frequent gene conversion events between the X and Y homologous chromosomal regions in primates. BMC Evol Biol 10: 225.
    • (2010) BMC Evol Biol , vol.10 , pp. 225
    • Iwase, M.1    Satta, Y.2    Hirai, H.3    Hirai, Y.4    Takahata, N.5
  • 30
    • 0038561163 scopus 로고    scopus 로고
    • The amelogenin loci span an ancient pseudoautosomal boundary in diverse mammalian species
    • Iwase M, Satta Y, Hirai Y, Hirai H, Imai H, et al. (2003) The amelogenin loci span an ancient pseudoautosomal boundary in diverse mammalian species. Proc Natl Acad Sci U S A 100: 5258-5263.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 5258-5263
    • Iwase, M.1    Satta, Y.2    Hirai, Y.3    Hirai, H.4    Imai, H.5
  • 31
    • 0041423668 scopus 로고    scopus 로고
    • Sex chromosomes: how X-Y recombination stops
    • Marais G, Galtier N, (2003) Sex chromosomes: how X-Y recombination stops. Curr Biol 13: R641-643.
    • (2003) Curr Biol , vol.13
    • Marais, G.1    Galtier, N.2
  • 32
    • 12944312756 scopus 로고    scopus 로고
    • Novel gene conversion between X-Y homologues located in the nonrecombining region of the Y chromosome in Felidae (Mammalia)
    • Pecon Slattery J, Sanner-Wachter L, O'Brien SJ, (2000) Novel gene conversion between X-Y homologues located in the nonrecombining region of the Y chromosome in Felidae (Mammalia). Proc Natl Acad Sci USA 97: 5307-5312.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 5307-5312
    • Pecon Slattery, J.1    Sanner-Wachter, L.2    O'Brien, S.J.3
  • 33
    • 47949108144 scopus 로고    scopus 로고
    • High-resolution mapping of meiotic crossovers and non-crossovers in yeast
    • Mancera E, Bourgon R, Brozzi A, Huber W, Steinmetz LM, (2008) High-resolution mapping of meiotic crossovers and non-crossovers in yeast. Nature 454: 479-485.
    • (2008) Nature , vol.454 , pp. 479-485
    • Mancera, E.1    Bourgon, R.2    Brozzi, A.3    Huber, W.4    Steinmetz, L.M.5
  • 34
    • 0842310835 scopus 로고    scopus 로고
    • Intense and highly localized gene conversion activity in human meiotic crossover hot spots
    • Jeffreys AJ, May CA, (2004) Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nature Genet 36: 152-156.
    • (2004) Nature Genet , vol.36 , pp. 152-156
    • Jeffreys, A.J.1    May, C.A.2
  • 35
    • 69649094480 scopus 로고    scopus 로고
    • Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes
    • Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, et al. (2009) Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 138: 855-869.
    • (2009) Cell , vol.138 , pp. 855-869
    • Lange, J.1    Skaletsky, H.2    van Daalen, S.K.3    Embry, S.L.4    Korver, C.M.5
  • 36
    • 33645418499 scopus 로고    scopus 로고
    • High mutation rates have driven extensive structural polymorphism among human Y chromosomes
    • Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, et al. (2006) High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38: 463-467.
    • (2006) Nat Genet , vol.38 , pp. 463-467
    • Repping, S.1    van Daalen, S.K.2    Brown, L.G.3    Korver, C.M.4    Lange, J.5
  • 39
    • 33645127519 scopus 로고    scopus 로고
    • Allelic recombination and de novo deletions in sperm in the human beta-globin gene region
    • Holloway K, Lawson VE, Jeffreys AJ, (2006) Allelic recombination and de novo deletions in sperm in the human beta-globin gene region. Hum Mol Genet 15: 1099-1111.
    • (2006) Hum Mol Genet , vol.15 , pp. 1099-1111
    • Holloway, K.1    Lawson, V.E.2    Jeffreys, A.J.3
  • 40
    • 79961097286 scopus 로고    scopus 로고
    • Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations
    • Berg IL, Neumann R, Sarbajna S, Odenthal-Hesse L, Butler NJ, et al. (2011) Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Proc Natl Acad Sci U S A 108: 12378-12383.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 12378-12383
    • Berg, I.L.1    Neumann, R.2    Sarbajna, S.3    Odenthal-Hesse, L.4    Butler, N.J.5
  • 41
    • 84859229732 scopus 로고    scopus 로고
    • A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events
    • Sarbajna S, Denniff M, Jeffreys AJ, Neumann R, Soler Artigas M, et al. (2012) A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events. Hum Mol Genet 21: 2029-2038.
    • (2012) Hum Mol Genet , vol.21 , pp. 2029-2038
    • Sarbajna, S.1    Denniff, M.2    Jeffreys, A.J.3    Neumann, R.4    Soler Artigas, M.5
  • 42
    • 70350236484 scopus 로고    scopus 로고
    • Biased gene conversion and the evolution of mammalian genomic landscapes
    • Duret L, Galtier N, (2009) Biased gene conversion and the evolution of mammalian genomic landscapes. Annu Rev Genomics Hum Genet 10: 285-311.
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 285-311
    • Duret, L.1    Galtier, N.2
  • 43
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • ENCODE Project Consortium
    • ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489: 57-74.
    • (2012) Nature , vol.489 , pp. 57-74
  • 44
    • 35448981532 scopus 로고    scopus 로고
    • Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee
    • Losch FO, Bredenbeck A, Hollstein VM, Walden P, Wrede P, (2007) Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee. Hum Genet 122: 337-343.
    • (2007) Hum Genet , vol.122 , pp. 337-343
    • Losch, F.O.1    Bredenbeck, A.2    Hollstein, V.M.3    Walden, P.4    Wrede, P.5
  • 45
    • 84864258558 scopus 로고    scopus 로고
    • Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm
    • Wang J, Fan HC, Behr B, Quake SR, (2012) Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell 150: 402-412.
    • (2012) Cell , vol.150 , pp. 402-412
    • Wang, J.1    Fan, H.C.2    Behr, B.3    Quake, S.R.4
  • 46
    • 79959648730 scopus 로고    scopus 로고
    • Signatures of the pre-agricultural peopling processes in sub-Saharan Africa as revealed by the phylogeography of early Y chromosome lineages
    • Batini C, Ferri G, Destro-Bisol G, Brisighelli F, Luiselli D, et al. (2011) Signatures of the pre-agricultural peopling processes in sub-Saharan Africa as revealed by the phylogeography of early Y chromosome lineages. Mol Biol Evol 28: 2603-2613.
    • (2011) Mol Biol Evol , vol.28 , pp. 2603-2613
    • Batini, C.1    Ferri, G.2    Destro-Bisol, G.3    Brisighelli, F.4    Luiselli, D.5
  • 47
    • 33847390726 scopus 로고    scopus 로고
    • Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
    • Armour JA, Palla R, Zeeuwen PL, den Heijer M, Schalkwijk J, et al. (2007) Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res 35: e19.
    • (2007) Nucleic Acids Res , vol.35
    • Armour, J.A.1    Palla, R.2    Zeeuwen, P.L.3    den Heijer, M.4    Schalkwijk, J.5
  • 48
    • 0000108127 scopus 로고
    • A rapid and quantitative DNA sex test - fluorescence-based PCR analysis of X-Y homologous gene amelogenin
    • Sullivan KM, Mannucci A, Kimpton CP, Gill P, (1993) A rapid and quantitative DNA sex test- fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques 15: 636.
    • (1993) Biotechniques , vol.15 , pp. 636
    • Sullivan, K.M.1    Mannucci, A.2    Kimpton, C.P.3    Gill, P.4
  • 49
    • 84868692234 scopus 로고    scopus 로고
    • A calibrated human Y-chromosomal phylogeny based on resequencing
    • Wei W, Ayub Q, Chen Y, McCarthy S, Hou Y, et al. (2013) A calibrated human Y-chromosomal phylogeny based on resequencing. Genome Res 23: 388-395.
    • (2013) Genome Res , vol.23 , pp. 388-395
    • Wei, W.1    Ayub, Q.2    Chen, Y.3    McCarthy, S.4    Hou, Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.