메뉴 건너뛰기




Volumn 47, Issue 7, 2015, Pages 727-735

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 84933054617     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3306     Document Type: Article
Times cited : (213)

References (60)
  • 1
    • 84863892710 scopus 로고    scopus 로고
    • Human aneuploidy: Mechanisms and new insights into an age-old problem
    • Nagaoka, S.I., Hassold, T.J. & Hunt, P.A. Human aneuploidy: mechanisms and new insights into an age-old problem. Nat. Rev. Genet. 13, 493-504 (2012).
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 493-504
    • Nagaoka, S.I.1    Hassold, T.J.2    Hunt, P.A.3
  • 2
    • 0035319804 scopus 로고    scopus 로고
    • To err (meiotically) is human: The genesis of human aneuploidy
    • Hassold, T. & Hunt, P. To err (meiotically) is human: The genesis of human aneuploidy. Nat. Rev. Genet. 2, 280-291 (2001).
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 280-291
    • Hassold, T.1    Hunt, P.2
  • 3
    • 0027937004 scopus 로고
    • Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns
    • Zaragoza, M.V. et al. Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum. Genet. 94, 411-417 (1994).
    • (1994) Hum. Genet. , vol.94 , pp. 411-417
    • Zaragoza, M.V.1
  • 5
    • 0019198839 scopus 로고
    • A cytogenetic study of 1000 spontaneous abortions
    • Hassold, T. et al. A cytogenetic study of 1000 spontaneous abortions. Ann. Hum. Genet. 44, 151-178 (1980).
    • (1980) Ann. Hum. Genet. , vol.44 , pp. 151-178
    • Hassold, T.1
  • 6
    • 33846953609 scopus 로고    scopus 로고
    • The National Down Syndrome Project: Design and implementation
    • Freeman, S.B. et al. The National Down Syndrome Project: design and implementation. Public Health Rep. 122, 62-72 (2007).
    • (2007) Public Health Rep. , vol.122 , pp. 62-72
    • Freeman, S.B.1
  • 7
    • 0029852774 scopus 로고    scopus 로고
    • Spontaneous X chromosome MI and MII nondisjunction events in Drosophila melanogaster oocytes have different recombinational histories
    • Koehler, K.E. et al. Spontaneous X chromosome MI and MII nondisjunction events in Drosophila melanogaster oocytes have different recombinational histories. Nat. Genet. 14, 406-414 (1996).
    • (1996) Nat. Genet. , vol.14 , pp. 406-414
    • Koehler, K.E.1
  • 8
    • 33845780087 scopus 로고    scopus 로고
    • Centromere-proximal crossovers are associated with precocious separation of sister chromatids during meiosis in Saccharomyces cerevisiae
    • Rockmill, B., Voelkel-Meiman, K. & Roeder, G.S. Centromere-proximal crossovers are associated with precocious separation of sister chromatids during meiosis in Saccharomyces cerevisiae. Genetics 174, 1745-1754 (2006).
    • (2006) Genetics , vol.174 , pp. 1745-1754
    • Rockmill, B.1    Voelkel-Meiman, K.2    Roeder, G.S.3
  • 9
    • 75149197360 scopus 로고    scopus 로고
    • On the origin of the maternal age effect in trisomy 21 Down syndrome: The oocyte mosaicism selection model
    • Hultén, M.A., Patel, S., Jonasson, J. & Iwarsson, E. On the origin of the maternal age effect in trisomy 21 Down syndrome: The oocyte mosaicism selection model. Reproduction 139, 1-9 (2010).
    • (2010) Reproduction , vol.139 , pp. 1-9
    • Hultén, M.A.1    Patel, S.2    Jonasson, J.3    Iwarsson, E.4
  • 10
    • 84893594630 scopus 로고    scopus 로고
    • Genome analyses of single human oocytes
    • Hou, Y. et al. Genome analyses of single human oocytes. Cell 155, 1492-1506 (2013).
    • (2013) Cell , vol.155 , pp. 1492-1506
    • Hou, Y.1
  • 11
    • 77957778886 scopus 로고    scopus 로고
    • Karyomapping: A universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes
    • Handyside, A.H. et al. Karyomapping: A universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J. Med. Genet. 47, 651-658 (2010).
    • (2010) J. Med. Genet. , vol.47 , pp. 651-658
    • Handyside, A.H.1
  • 12
    • 84908422368 scopus 로고    scopus 로고
    • Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
    • Natesan, S.A. et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet. Med. 16, 838-845 (2014).
    • (2014) Genet. Med. , vol.16 , pp. 838-845
    • Natesan, S.A.1
  • 13
    • 78751591342 scopus 로고    scopus 로고
    • The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender
    • Alfarawati, S. et al. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil. Steril. 95, 520-524 (2011).
    • (2011) Fertil. Steril. , vol.95 , pp. 520-524
    • Alfarawati, S.1
  • 15
    • 79951956230 scopus 로고    scopus 로고
    • Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos
    • Gutiérrez-Mateo, C. et al. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil. Steril. 95, 953-958 (2011).
    • (2011) Fertil. Steril. , vol.95 , pp. 953-958
    • Gutiérrez-Mateo, C.1
  • 16
    • 84872553398 scopus 로고    scopus 로고
    • Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: Insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development
    • Capalbo, A. et al. Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development. Hum. Reprod. 28, 509-518 (2013).
    • (2013) Hum. Reprod. , vol.28 , pp. 509-518
    • Capalbo, A.1
  • 17
    • 84894424408 scopus 로고    scopus 로고
    • The nature of aneuploidy with increasing age of the female partner: A review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening
    • Franasiak, J.M. et al. The nature of aneuploidy with increasing age of the female partner: A review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil. Steril. 101, 656-663 (2014).
    • (2014) Fertil. Steril. , vol.101 , pp. 656-663
    • Franasiak, J.M.1
  • 19
    • 0025981145 scopus 로고
    • Predivision in human oocytes at meiosis I: A mechanism for trisomy formation in man
    • Angell, R.R. Predivision in human oocytes at meiosis I: A mechanism for trisomy formation in man. Hum. Genet. 86, 383-387 (1991).
    • (1991) Hum. Genet. , vol.86 , pp. 383-387
    • Angell, R.R.1
  • 20
    • 84863718514 scopus 로고    scopus 로고
    • Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation
    • Handyside, A.H. et al. Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation. Eur. J. Hum. Genet. 20, 742-747 (2012).
    • (2012) Eur. J. Hum. Genet. , vol.20 , pp. 742-747
    • Handyside, A.H.1
  • 21
    • 84920559546 scopus 로고    scopus 로고
    • Alternative meiotic chromatid segregation in the holocentric plant Luzula elegans
    • Heckmann, S. et al. Alternative meiotic chromatid segregation in the holocentric plant Luzula elegans. Nat. Commun. 5, 4979 (2014).
    • (2014) Nat. Commun. , vol.5 , pp. 4979
    • Heckmann, S.1
  • 23
    • 58149200171 scopus 로고    scopus 로고
    • Inverted meiosis: The true bugs as a model to study
    • Viera, A., Page, J. & Rufas, J.S. Inverted meiosis: The true bugs as a model to study. Genome Dyn. 5, 137-156 (2009).
    • (2009) Genome Dyn. , vol.5 , pp. 137-156
    • Viera, A.1    Page, J.2    Rufas, J.S.3
  • 24
    • 39449116116 scopus 로고    scopus 로고
    • High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans
    • Coop, G., Wen, X., Ober, C., Pritchard, J.K. & Przeworski, M. High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science 319, 1395-1398 (2008).
    • (2008) Science , vol.319 , pp. 1395-1398
    • Coop, G.1    Wen, X.2    Ober, C.3    Pritchard, J.K.4    Przeworski, M.5
  • 25
    • 84903824967 scopus 로고    scopus 로고
    • Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21
    • Middlebrooks, C.D. et al. Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21. Hum. Mol. Genet. 23, 408-417 (2014).
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 408-417
    • Middlebrooks, C.D.1
  • 26
    • 18544381909 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome
    • Kong, A. et al. A high-resolution recombination map of the human genome. Nat. Genet. 31, 241-247 (2002).
    • (2002) Nat. Genet. , vol.31 , pp. 241-247
    • Kong, A.1
  • 27
    • 11144325648 scopus 로고    scopus 로고
    • Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes
    • Lenzi, M.L. et al. Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis I in human oocytes. Am. J. Hum. Genet. 76, 112-127 (2005).
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 112-127
    • Lenzi, M.L.1
  • 28
    • 70349659695 scopus 로고    scopus 로고
    • Meiotic recombination in human oocytes
    • Cheng, E.Y. et al. Meiotic recombination in human oocytes. PLoS Genet. 5, e1000661 (2009).
    • (2009) PLoS Genet. , vol.5 , pp. e1000661
    • Cheng, E.Y.1
  • 29
    • 84893194272 scopus 로고    scopus 로고
    • Cytological studies of human meiosis: Sex-specific differences in recombination originate at, or prior to, establishment of double-strand breaks
    • Gruhn, J.R., Rubio, C., Broman, K.W., Hunt, P.A. & Hassold, T. Cytological studies of human meiosis: sex-specific differences in recombination originate at, or prior to, establishment of double-strand breaks. PLoS ONE 8, e85075 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e85075
    • Gruhn, J.R.1    Rubio, C.2    Broman, K.W.3    Hunt, P.A.4    Hassold, T.5
  • 30
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: Individual and sex-specific variation in recombination
    • Broman, K.W., Murray, J.C., Sheffield, V.C., White, R.L. & Weber, J.L. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63, 861-869 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 861-869
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3    White, R.L.4    Weber, J.L.5
  • 31
    • 0036091625 scopus 로고    scopus 로고
    • Patterns of meiotic recombination in human fetal oocytes
    • Tease, C., Hartshorne, G.M. & Hulten, M.A. Patterns of meiotic recombination in human fetal oocytes. Am. J. Hum. Genet. 70, 1469-1479 (2002).
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1469-1479
    • Tease, C.1    Hartshorne, G.M.2    Hulten, M.A.3
  • 32
    • 11144292271 scopus 로고    scopus 로고
    • Recombination rate and reproductive success in humans
    • Kong, A. et al. Recombination rate and reproductive success in humans. Nat. Genet. 36, 1203-1206 (2004).
    • (2004) Nat. Genet. , vol.36 , pp. 1203-1206
    • Kong, A.1
  • 33
    • 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. & Donnelly, P. A fine-scale map of recombination rates and hotspots across the human genome. Science 310, 321-324 (2005).
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donnelly, P.5
  • 34
    • 39449106471 scopus 로고    scopus 로고
    • Sequence variants in the RNF212 gene associate with genome-wide recombination rate
    • Kong, A. et al. Sequence variants in the RNF212 gene associate with genome-wide recombination rate. Science 319, 1398-1401 (2008).
    • (2008) Science , vol.319 , pp. 1398-1401
    • Kong, A.1
  • 35
    • 78049354879 scopus 로고    scopus 로고
    • Fine-scale recombination rate differences between sexes, populations and individuals
    • Kong, A. et al. Fine-scale recombination rate differences between sexes, populations and individuals. Nature 467, 1099-1103 (2010).
    • (2010) Nature , vol.467 , pp. 1099-1103
    • Kong, A.1
  • 36
    • 84891373510 scopus 로고    scopus 로고
    • Common and low-frequency variants associated with genome-wide recombination rate
    • Kong, A. et al. Common and low-frequency variants associated with genome-wide recombination rate. Nat. Genet. 46, 11-16 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 11-16
    • Kong, A.1
  • 38
    • 84900796029 scopus 로고    scopus 로고
    • Correlation between standard blastocyst morphology, euploidy and implantation: An observational study in two centers involving 956 screened blastocysts
    • Capalbo, A. et al. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum. Reprod. 29, 1173-1181 (2014).
    • (2014) Hum. Reprod. , vol.29 , pp. 1173-1181
    • Capalbo, A.1
  • 39
    • 0033790732 scopus 로고    scopus 로고
    • Nonrandom segregation of the mouse univalent X chromosome: Evidence of spindle-mediated meiotic drive
    • LeMaire-Adkins, R. & Hunt, P.A. Nonrandom segregation of the mouse univalent X chromosome: evidence of spindle-mediated meiotic drive. Genetics 156, 775-783 (2000).
    • (2000) Genetics , vol.156 , pp. 775-783
    • Lemaire-Adkins, R.1    Hunt, P.A.2
  • 40
    • 34547533178 scopus 로고    scopus 로고
    • Bi-orientation of achiasmatic chromosomes in meiosis i oocytes contributes to aneuploidy in mice
    • Kouznetsova, A., Lister, L., Nordenskjold, M., Herbert, M. & Hoog, C. Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice. Nat. Genet. 39, 966-968 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 966-968
    • Kouznetsova, A.1    Lister, L.2    Nordenskjold, M.3    Herbert, M.4    Hoog, C.5
  • 41
    • 0033659417 scopus 로고    scopus 로고
    • Maternal age and trisomy-A unifying mechanism of formation
    • Wolstenholme, J. & Angell, R.R. Maternal age and trisomy-A unifying mechanism of formation. Chromosoma 109, 435-438 (2000).
    • (2000) Chromosoma , vol.109 , pp. 435-438
    • Wolstenholme, J.1    Angell, R.R.2
  • 42
    • 77955959649 scopus 로고    scopus 로고
    • Dynamics of cohesin proteins REC8, STAG3, SMC1β and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes
    • Garcia-Cruz, R. et al. Dynamics of cohesin proteins REC8, STAG3, SMC1β and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes. Hum. Reprod. 25, 2316-2327 (2010).
    • (2010) Hum. Reprod. , vol.25 , pp. 2316-2327
    • Garcia-Cruz, R.1
  • 43
    • 0000347912 scopus 로고
    • Meiotic drive as an evolutionary force
    • Sandler, L. & Novitski, E. Meiotic drive as an evolutionary force. Am. Nat. 91, 105-110 (1957).
    • (1957) Am. Nat. , vol.91 , pp. 105-110
    • Sandler, L.1    Novitski, E.2
  • 45
    • 0035021901 scopus 로고    scopus 로고
    • Nonrandom segregation during meiosis: The unfairness of females
    • Pardo-Manuel de Villena, F. & Sapienza, C. Nonrandom segregation during meiosis: The unfairness of females. Mamm. Genome 12, 331-339 (2001).
    • (2001) Mamm. Genome , vol.12 , pp. 331-339
    • De Villena, P.-M.F.1    Sapienza, C.2
  • 46
    • 0029775626 scopus 로고    scopus 로고
    • Induction of centromeric activity in maize by suppressor of meiotic drive 1
    • Dawe, R.K. & Cande, W.Z. Induction of centromeric activity in maize by suppressor of meiotic drive 1. Proc. Natl. Acad. Sci. USA 93, 8512-8517 (1996).
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 8512-8517
    • Dawe, R.K.1    Cande, W.Z.2
  • 47
    • 0026333464 scopus 로고
    • Genetic scrambling as a defence against meiotic drive
    • Haig, D. & Grafen, A. Genetic scrambling as a defence against meiotic drive. J. Theor. Biol. 153, 531-558 (1991).
    • (1991) J. Theor. Biol. , vol.153 , pp. 531-558
    • Haig, D.1    Grafen, A.2
  • 48
    • 84908221060 scopus 로고    scopus 로고
    • Centromere strength provides the cell biological basis for meiotic drive and karyotype evolution in mice
    • Chmátal, L. et al. Centromere strength provides the cell biological basis for meiotic drive and karyotype evolution in mice. Curr. Biol. 24, 2295-2300 (2014).
    • (2014) Curr. Biol. , vol.24 , pp. 2295-2300
    • Chmátal, L.1
  • 49
    • 84857396036 scopus 로고    scopus 로고
    • Scrambling eggs: Meiotic drive and the evolution of female recombination rates
    • Brandvain, Y. & Coop, G. Scrambling eggs: meiotic drive and the evolution of female recombination rates. Genetics 190, 709-723 (2012).
    • (2012) Genetics , vol.190 , pp. 709-723
    • Brandvain, Y.1    Coop, G.2
  • 50
    • 84903127483 scopus 로고    scopus 로고
    • Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases
    • Wang, T. et al. Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases. Cell 157, 1591-1604 (2014).
    • (2014) Cell , vol.157 , pp. 1591-1604
    • Wang, T.1
  • 51
    • 0037150706 scopus 로고    scopus 로고
    • Covariation of synaptonemal complex length and mammalian meiotic exchange rates
    • Lynn, A. et al. Covariation of synaptonemal complex length and mammalian meiotic exchange rates. Science 296, 2222-2225 (2002).
    • (2002) Science , vol.296 , pp. 2222-2225
    • Lynn, A.1
  • 53
    • 0030845881 scopus 로고    scopus 로고
    • First-meiotic-division nondisjunction in human oocytes
    • Angell, R. First-meiotic-division nondisjunction in human oocytes. Am. J. Hum. Genet. 61, 23-32 (1997).
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 23-32
    • Angell, R.1
  • 54
    • 72849147965 scopus 로고    scopus 로고
    • Cytogenetic analyses of human oocytes provide new data on non-disjunction mechanisms and the origin of trisomy 16
    • Garcia-Cruz, R. et al. Cytogenetic analyses of human oocytes provide new data on non-disjunction mechanisms and the origin of trisomy 16. Hum. Reprod. 25, 179-191 (2010).
    • (2010) Hum. Reprod. , vol.25 , pp. 179-191
    • Garcia-Cruz, R.1
  • 55
    • 84892717314 scopus 로고    scopus 로고
    • Smc5/6 coordinates formation and resolution of joint molecules with chromosome morphology to ensure meiotic divisions
    • Copsey, A. et al. Smc5/6 coordinates formation and resolution of joint molecules with chromosome morphology to ensure meiotic divisions. PLoS Genet. 9, e1004071 (2013).
    • (2013) PLoS Genet. , vol.9 , pp. e1004071
    • Copsey, A.1
  • 56
    • 59249105127 scopus 로고    scopus 로고
    • Heterochromatic threads connect oscillating chromosomes during prometaphase i in Drosophila oocytes
    • Hughes, S.E. et al. Heterochromatic threads connect oscillating chromosomes during prometaphase I in Drosophila oocytes. PLoS Genet. 5, e1000348 (2009).
    • (2009) PLoS Genet. , vol.5 , pp. e1000348
    • Hughes, S.E.1
  • 57
    • 0014634088 scopus 로고
    • Distance segregation and compound sex chromosomes in mantispids (Neuroptera:Mantispidae)
    • Hughes-Schrader, S. Distance segregation and compound sex chromosomes in mantispids (Neuroptera:Mantispidae). Chromosoma 27, 109-129 (1969).
    • (1969) Chromosoma , vol.27 , pp. 109-129
    • Hughes-Schrader, S.1
  • 58
    • 33845222842 scopus 로고    scopus 로고
    • Highly efficient vitrification for cryopreservation of human oocytes and embryos: The Cryotop method
    • Kuwayama, M. Highly efficient vitrification for cryopreservation of human oocytes and embryos: The Cryotop method. Theriogenology 67, 73-80 (2007).
    • (2007) Theriogenology , vol.67 , pp. 73-80
    • Kuwayama, M.1
  • 59
    • 24644455926 scopus 로고    scopus 로고
    • Highly efficient vitrification method for cryopreservation of human oocytes
    • Kuwayama, M., Vajta, G., Kato, O. & Leibo, S.P. Highly efficient vitrification method for cryopreservation of human oocytes. Reprod. Biomed. Online 11, 300-308 (2005).
    • (2005) Reprod. Biomed. Online , vol.11 , pp. 300-308
    • Kuwayama, M.1    Vajta, G.2    Kato, O.3    Leibo, S.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.