메뉴 건너뛰기




Volumn 21, Issue 9, 2012, Pages 2029-2038

A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events

Author keywords

[No Author keywords available]

Indexed keywords

PROTEINASE ACTIVATED RECEPTOR 1; PROTEINASE ACTIVATED RECEPTOR 2;

EID: 84859229732     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds019     Document Type: Article
Times cited : (26)

References (59)
  • 1
    • 0034795550 scopus 로고    scopus 로고
    • Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
    • Jeffreys, A.J., Kauppi, L. and Neumann, R. (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat. Genet., 29, 217-222.
    • (2001) Nat. Genet. , vol.29 , pp. 217-222
    • Jeffreys, A.J.1    Kauppi, L.2    Neumann, R.3
  • 2
    • 26844482093 scopus 로고    scopus 로고
    • A fine-scale map of recombination rates and hotspots across the human genome
    • Myers, S., Bottolo, L., Freeman, C., McVean, G. and Donelly, P. (2005) A fine-scale map of recombination rates and hotspots across the human genome. Science, 310, 321-324.
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donelly, P.5
  • 3
    • 50449088155 scopus 로고    scopus 로고
    • A common sequence motif associated with recombination hot spots and genome instability in humans
    • Myers, S., Freeman, C., Auton, A., Donnelly, P. and McVean, G. (2008) A common sequence motif associated with recombination hot spots and genome instability in humans. Nat. Genet., 40, 1124-1129.
    • (2008) Nat. Genet. , vol.40 , pp. 1124-1129
    • Myers, S.1    Freeman, C.2    Auton, A.3    Donnelly, P.4    McVean, G.5
  • 5
    • 77957579303 scopus 로고    scopus 로고
    • PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans
    • Berg, I.L., Neumann, R., Lam, K-W., Sarbajna, S., Odenthal-Hesse, L., May, C.A. and Jeffreys, A.J. (2010) PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat. Genet., 42, 859-863.
    • (2010) Nat. Genet. , vol.42 , pp. 859-863
    • Berg, I.L.1    Neumann, R.2    Lam, K.-W.3    Sarbajna, S.4    Odenthal-Hesse, L.5    May, C.A.6    Jeffreys, A.J.7
  • 7
    • 76749151934 scopus 로고    scopus 로고
    • Prdm9 controls activation of mammalian recombination hotspots
    • Parvanov, E.D., Petkov, P.M. and Paigen, K. (2010) Prdm9 controls activation of mammalian recombination hotspots. Science, 327, 835.
    • (2010) Science , vol.327 , pp. 835
    • Parvanov, E.D.1    Petkov, P.M.2    Paigen, K.3
  • 8
    • 77249144000 scopus 로고    scopus 로고
    • Mammalian recombination hot spots: Properties, control and evolution
    • Paigen, K. and Petkov, P.M. (2010) Mammalian recombination hot spots: Properties, control and evolution. Nat. Rev. Genet., 11, 221-233.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 221-233
    • Paigen, K.1    Petkov, P.M.2
  • 11
    • 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, I.L., Neumann, R., Sarbajna, S., Odenthal-Hesse, L., Butler, N.J. and Jeffreys, A.J. (2011) Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Proc. Natl Acad. Sci. USA, 108, 12378-12383.
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 12378-12383
    • Berg, I.L.1    Neumann, R.2    Sarbajna, S.3    Odenthal-Hesse, L.4    Butler, N.J.5    Jeffreys, A.J.6
  • 12
    • 0036649022 scopus 로고    scopus 로고
    • Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot
    • Jeffreys, A.J. and Neumann, R. (2002) Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot. Nat. Genet., 31, 267-271.
    • (2002) Nat. Genet. , vol.31 , pp. 267-271
    • Jeffreys, A.J.1    Neumann, R.2
  • 13
    • 26444503776 scopus 로고    scopus 로고
    • Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot
    • Jeffreys, A.J. and Neumann, R. (2005) Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot. Hum. Mol. Genet., 14, 2277-2287.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 2277-2287
    • Jeffreys, A.J.1    Neumann, R.2
  • 14
    • 0842310835 scopus 로고    scopus 로고
    • Intense and highly localized gene conversion activity in human meiotic crossover hot spots
    • Jeffreys, A.J. and May, C.A. (2004) Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat. Genet., 36, 151-156.
    • (2004) Nat. Genet. , vol.36 , pp. 151-156
    • Jeffreys, A.J.1    May, C.A.2
  • 15
    • 33645127519 scopus 로고    scopus 로고
    • Allelic recombination and de novo deletions in sperm in the human beta-globin gene region
    • Holloway, K., Lawson, V.E. and Jeffreys, A.J. (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
  • 16
    • 0036787813 scopus 로고    scopus 로고
    • An initiation site for meiotic crossing-over and gene conversion in the mouse
    • Guillon, H. and de Massy, B. (2002) An initiation site for meiotic crossing-over and gene conversion in the mouse. Nat. Genet., 32, 296-299.
    • (2002) Nat. Genet. , vol.32 , pp. 296-299
    • Guillon, H.1    de Massy, B.2
  • 17
    • 77956536176 scopus 로고    scopus 로고
    • Comprehensive, fine-scale dissection of homologous recombination outcomes at a hot spot in mouse meiosis
    • Cole, F., Keeney, S. and Jason, M. (2010) Comprehensive, fine-scale dissection of homologous recombination outcomes at a hot spot in mouse meiosis. Mol. Cell, 39, 700-710.
    • (2010) Mol. Cell , vol.39 , pp. 700-710
    • Cole, F.1    Keeney, S.2    Jason, M.3
  • 18
    • 0035223878 scopus 로고    scopus 로고
    • Mechanism and control of meiotic recombination initiation
    • Keeney, S. (2001) Mechanism and control of meiotic recombination initiation. Curr. Top. Dev. Biol., 52, 1-53.
    • (2001) Curr. Top. Dev. Biol. , vol.52 , pp. 1-53
    • Keeney, S.1
  • 19
    • 27944485794 scopus 로고    scopus 로고
    • Crossover and noncrossover pathways in mouse meiosis
    • Guillon, H., Baudat, F., Grey, C., Liskay, R.M. and de Massy, B. (2005) Crossover and noncrossover pathways in mouse meiosis. Mol. Cell, 20, 563-573.
    • (2005) Mol. Cell , vol.20 , pp. 563-573
    • Guillon, H.1    Baudat, F.2    Grey, C.3    Liskay, R.M.4    de Massy, B.5
  • 20
    • 34547673378 scopus 로고    scopus 로고
    • Regulating double-stranded DNA break repair towards crossover or non-crossover during mammalian meiosis
    • Baudat, F. and de Massy, B. (2007) Regulating double-stranded DNA break repair towards crossover or non-crossover during mammalian meiosis. Chromosome Res., 15, 565-577.
    • (2007) Chromosome Res. , vol.15 , pp. 565-577
    • Baudat, F.1    de Massy, B.2
  • 21
    • 0034887008 scopus 로고    scopus 로고
    • Intermediates of yeast meiotic recombination contain heteroduplex DNA
    • Allers, T. and Lichten, M. (2001) Intermediates of yeast meiotic recombination contain heteroduplex DNA. Mol. Cell, 8, 225-231.
    • (2001) Mol. Cell , vol.8 , pp. 225-231
    • Allers, T.1    Lichten, M.2
  • 22
    • 0035854362 scopus 로고    scopus 로고
    • The single-end invasion: an asymmetric intermediate at the double-strand break to double-Holliday junction transition of meiotic recombination
    • Hunter, N. and Kleckner, N. (2001) The single-end invasion: an asymmetric intermediate at the double-strand break to double-Holliday junction transition of meiotic recombination. Cell, 106, 59-70.
    • (2001) Cell , vol.106 , pp. 59-70
    • Hunter, N.1    Kleckner, N.2
  • 23
    • 0038799991 scopus 로고    scopus 로고
    • Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae
    • Pâques, F. and Haber, J.E. (1999) Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol. Mol. Biol. Rev., 63, 349-404.
    • (1999) Microbiol. Mol. Biol. Rev. , vol.63 , pp. 349-404
    • Pâques, F.1    Haber, J.E.2
  • 24
    • 0023341383 scopus 로고
    • Gene conversion, recombination nodules, and the initiation of meiotic synapsis
    • Carpenter, A.T.C. (1987) Gene conversion, recombination nodules, and the initiation of meiotic synapsis. Bioessays, 6, 232-236.
    • (1987) Bioessays , vol.6 , pp. 232-236
    • Carpenter, A.T.C.1
  • 25
    • 0032444856 scopus 로고    scopus 로고
    • The leptotene-zygotene transition of meiosis
    • Zickler, D. and Kleckner, N. (1998) The leptotene-zygotene transition of meiosis. Ann. Rev. Genet., 32, 619-697.
    • (1998) Ann. Rev. Genet. , vol.32 , pp. 619-697
    • Zickler, D.1    Kleckner, N.2
  • 26
    • 0034662914 scopus 로고    scopus 로고
    • Restriction of ectopic recombination by interhomolog interactions during Saccharomyces cerevisiae meiosis
    • Goldman, A.S. and Lichten, M. (2000) Restriction of ectopic recombination by interhomolog interactions during Saccharomyces cerevisiae meiosis. Proc. Natl Acad. Sci. USA, 97, 9537-9542.
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 9537-9542
    • Goldman, A.S.1    Lichten, M.2
  • 27
    • 0022342294 scopus 로고
    • Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal
    • Cooke, H.J., Brown, W.R.A. and Rappold, G.A. (1985) Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature, 317, 687-692.
    • (1985) Nature , vol.317 , pp. 687-692
    • Cooke, H.J.1    Brown, W.R.A.2    Rappold, G.A.3
  • 29
    • 0022630729 scopus 로고
    • A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes
    • Rouyer, F., Simmler, M.C., Johnsson, C., Vergnaud, G., Cooke, H.J. and Weissenbach, J. (1986) A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature, 319, 291-295.
    • (1986) Nature , vol.319 , pp. 291-295
    • Rouyer, F.1    Simmler, M.C.2    Johnsson, C.3    Vergnaud, G.4    Cooke, H.J.5    Weissenbach, J.6
  • 30
    • 0026334334 scopus 로고
    • XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region
    • Hassold, T.J., Sherman, S.L., Pettay, D., Page, D.C. and Jacobs, P.A. (1991) XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am. J. Hum. Genet., 49, 253-260.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 253-260
    • Hassold, T.J.1    Sherman, S.L.2    Pettay, D.3    Page, D.C.4    Jacobs, P.A.5
  • 31
    • 0035865957 scopus 로고    scopus 로고
    • Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24, XY human sperm
    • Shi, Q., Spriggs, E., Field, L.L., Ko, E., Barclay, L. and Martin, R.H. (2001) Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24, XY human sperm. Am. J. Med. Genet., 99, 34-38.
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 34-38
    • Shi, Q.1    Spriggs, E.2    Field, L.L.3    Ko, E.4    Barclay, L.5    Martin, R.H.6
  • 32
    • 0023651112 scopus 로고
    • Evolution of homologous sequences on the human X and Y chromosomes, outside of the meiotic pairing segment
    • Bickmore, W. and Cooke, H.J. (1987) Evolution of homologous sequences on the human X and Y chromosomes, outside of the meiotic pairing segment. Nucleic Acids Res., 15, 6261-6271.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 6261-6271
    • Bickmore, W.1    Cooke, H.J.2
  • 33
    • 0028198384 scopus 로고
    • The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes
    • Kvaløy, K., Galagni, F. and Brown, W.R.A. (1994) The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum. Mol. Genet., 3, 771-778.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 771-778
    • Kvaløy, K.1    Galagni, F.2    Brown, W.R.A.3
  • 38
    • 0025220142 scopus 로고
    • Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes
    • Speed, R.M. and Chandley, A.C. (1990) Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum. Genet., 84, 547-554.
    • (1990) Hum. Genet. , vol.84 , pp. 547-554
    • Speed, R.M.1    Chandley, A.C.2
  • 39
    • 0028063141 scopus 로고
    • XY chromosome behaviour in the germ-line of the human male, a FISH analysis of spatial orientation, chromatin condensation and pairing
    • Armstrong, S.J., Kirkham, A.J. and Hultén, M.A. (1994) XY chromosome behaviour in the germ-line of the human male, a FISH analysis of spatial orientation, chromatin condensation and pairing. Chromosome Res., 2, 445-452.
    • (1994) Chromosome Res. , vol.2 , pp. 445-452
    • Armstrong, S.J.1    Kirkham, A.J.2    Hultén, M.A.3
  • 40
    • 0027089750 scopus 로고
    • Identification of a second pseudoautosomal region near the Xq and Yq telomeres
    • Freije, D., Helms, C., Watson, M.S. and Donis-Keller, H. (1992) Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science, 258, 1784-1787.
    • (1992) Science , vol.258 , pp. 1784-1787
    • Freije, D.1    Helms, C.2    Watson, M.S.3    Donis-Keller, H.4
  • 41
    • 0028867430 scopus 로고
    • Recombination and allelic association in the Xq/Yq homology region
    • Li, L. and Hamer, D.H. (1995) Recombination and allelic association in the Xq/Yq homology region. Hum. Mol. Genet., 4, 2013-2016.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2013-2016
    • Li, L.1    Hamer, D.H.2
  • 42
    • 45749107877 scopus 로고    scopus 로고
    • The human pseudoautosomal regions: a review for genetic epidemiologists
    • Flaquer, A., Rappold, G.A., Wienker, T.F. and Fischer, C. (2008) The human pseudoautosomal regions: a review for genetic epidemiologists. Eur. J. Hum. Genet., 16, 771-779.
    • (2008) Eur. J. Hum. Genet. , vol.16 , pp. 771-779
    • Flaquer, A.1    Rappold, G.A.2    Wienker, T.F.3    Fischer, C.4
  • 43
    • 66749146660 scopus 로고    scopus 로고
    • A new sex-specific map of the human pseudoautosomal regions (PAR1 and PAR2)
    • Flaquer, A., Fischer, C. and Wienker, T.F. (2009) A new sex-specific map of the human pseudoautosomal regions (PAR1 and PAR2). Hum. Hered., 68, 192-200.
    • (2009) Hum. Hered. , vol.68 , pp. 192-200
    • Flaquer, A.1    Fischer, C.2    Wienker, T.F.3
  • 44
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • International HapMap Constortium
    • International HapMap Constortium. (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature, 449, 851-862.
    • (2007) Nature , vol.449 , pp. 851-862
  • 45
    • 70350783942 scopus 로고    scopus 로고
    • Analysis of meiotic recombination products from human sperm
    • Kauppi, L., May, C.A. and Jeffreys, A.J. (2009) Analysis of meiotic recombination products from human sperm. Methods Mol. Biol., 557, 323-355.
    • (2009) Methods Mol. Biol. , vol.557 , pp. 323-355
    • Kauppi, L.1    May, C.A.2    Jeffreys, A.J.3
  • 46
    • 2142773942 scopus 로고    scopus 로고
    • The fine-scale structure of recombination rate variation in the human genome
    • McVean, G.A., Myers, S.R., Hunt, S., Deloukas, P., Bentley, D.R. and Donnelly, P. (2004) The fine-scale structure of recombination rate variation in the human genome. Science, 304, 581-584.
    • (2004) Science , vol.304 , pp. 581-584
    • McVean, G.A.1    Myers, S.R.2    Hunt, S.3    Deloukas, P.4    Bentley, D.R.5    Donnelly, P.6
  • 48
    • 48749119888 scopus 로고    scopus 로고
    • Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association
    • Webb, A.J., Berg, I.L. and Jeffreys, A. (2008) Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. Proc. Natl Acad. Sci. USA, 105, 10471-10476.
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 10471-10476
    • Webb, A.J.1    Berg, I.L.2    Jeffreys, A.3
  • 49
    • 67349279403 scopus 로고    scopus 로고
    • The rise and fall of a human recombination hotspot
    • Jeffreys, A.J. and Neumann, R. (2009) The rise and fall of a human recombination hotspot. Nat. Genet., 41, 625-629.
    • (2009) Nat. Genet. , vol.41 , pp. 625-629
    • Jeffreys, A.J.1    Neumann, R.2
  • 52
    • 20044377420 scopus 로고    scopus 로고
    • Human recombination hot spots hidden in regions of strong marker association
    • Jeffreys, A.J., Neumann, R., Panayi, M., Myers, S. and Donnelly, P. (2005) Human recombination hot spots hidden in regions of strong marker association. Nat. Genet., 37, 601-606.
    • (2005) Nat. Genet. , vol.37 , pp. 601-606
    • Jeffreys, A.J.1    Neumann, R.2    Panayi, M.3    Myers, S.4    Donnelly, P.5
  • 53
    • 0036648248 scopus 로고    scopus 로고
    • Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX
    • May, C.A., Shone, A.C., Kalaydjieva, L., Sajantila, A. and Jeffreys, A.J. (2002) Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nat. Genet., 31, 272-275.
    • (2002) Nat. Genet. , vol.31 , pp. 272-275
    • May, C.A.1    Shone, A.C.2    Kalaydjieva, L.3    Sajantila, A.4    Jeffreys, A.J.5
  • 54
    • 79951845521 scopus 로고    scopus 로고
    • Distinct properties of the XY pseudoautosomal region crucial for male meiosis
    • Kauppi, L., Barchi, M., Baudat, F., Romanienko, P.J., Keeney, S. and Jasin, M. (2011) Distinct properties of the XY pseudoautosomal region crucial for male meiosis. Science, 331, 916-920.
    • (2011) Science , vol.331 , pp. 916-920
    • Kauppi, L.1    Barchi, M.2    Baudat, F.3    Romanienko, P.J.4    Keeney, S.5    Jasin, M.6
  • 55
    • 34047200066 scopus 로고    scopus 로고
    • Live hot, die young: transmission distortion in recombination hotspots
    • Coop, G. and Myers, S.R. (2007) Live hot, die young: transmission distortion in recombination hotspots. PLoS Genet., 3, e35.
    • (2007) PLoS Genet. , vol.3
    • Coop, G.1    Myers, S.R.2
  • 56
    • 77949420670 scopus 로고    scopus 로고
    • GEN1/Yen1 and the SLX4 complex: Solutions to the problem of Holliday junction resolution
    • Svendsen, J.M. and Harper, J.W. (2010) GEN1/Yen1 and the SLX4 complex: Solutions to the problem of Holliday junction resolution. Genes Dev., 24, 521-536.
    • (2010) Genes Dev. , vol.24 , pp. 521-536
    • Svendsen, J.M.1    Harper, J.W.2
  • 57
    • 80053451692 scopus 로고    scopus 로고
    • Genome-wide analysis of heteroduplex DNA in mismatch repair-deficient yeast cells reveals novel properties of meiotic recombination pathways
    • Martini, E., Borde, V., Legendre, M., Audic, S., Regault, B., Soubigou, G., Dujon, B. and Llorente, B. (2011) Genome-wide analysis of heteroduplex DNA in mismatch repair-deficient yeast cells reveals novel properties of meiotic recombination pathways. PLoS Genet., 9, e1002305.
    • (2011) PLoS Genet. , vol.9
    • Martini, E.1    Borde, V.2    Legendre, M.3    Audic, S.4    Regault, B.5    Soubigou, G.6    Dujon, B.7    Llorente, B.8
  • 59
    • 0024245669 scopus 로고
    • Amplification of human minisatellites by the polymerase chain reaction, towards DNA fingerprinting of single cells
    • Jeffreys, A.J., Wilson, V., Neumann, R. and Keyte, J. (1988) Amplification of human minisatellites by the polymerase chain reaction, towards DNA fingerprinting of single cells. Nucleic Acids Res., 16, 10953-10971.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 10953-10971
    • Jeffreys, A.J.1    Wilson, V.2    Neumann, R.3    Keyte, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.