메뉴 건너뛰기




Volumn 19, Issue 13, 2010, Pages 2630-2637

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 11Q; CHROMOSOME 22Q; CHROMOSOME BREAKAGE; CHROMOSOME STRUCTURE; CHROMOSOME TRANSLOCATION 11; CONTROLLED STUDY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC STABILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HYPOTHESIS; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SPERMATOZOON; ALLELE; AT RICH SEQUENCE; CHEMISTRY; CHROMOSOME 11; CHROMOSOME 22; DNA SEQUENCE; GENE TRANSLOCATION; GENETICS; MOLECULAR GENETICS;

EID: 77954166543     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq150     Document Type: Article
Times cited : (16)

References (29)
  • 1
    • 0018932911 scopus 로고
    • The 11q;22q translocation: a European collaborative analysis of 43 cases
    • Fraccaro, M., Lindsten, J., Ford, C.E. and Iselius, L. (1980) The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum. Genet., 56, 21-51.
    • (1980) Hum. Genet. , vol.56 , pp. 21-51
    • Fraccaro, M.1    Lindsten, J.2    Ford, C.E.3    Iselius, L.4
  • 2
    • 0019135082 scopus 로고
    • Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction
    • Zackai, E.H. and Emanuel, B.S. (1980) Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am. J. Med. Genet., 7, 507-521.
    • (1980) Am. J. Med. Genet. , vol.7 , pp. 507-521
    • Zackai, E.H.1    Emanuel, B.S.2
  • 3
    • 68049114586 scopus 로고    scopus 로고
    • Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): clinical features of 63 individuals
    • Carter, M.T., St Pierre, S.A., Zackai, E.H., Emanuel, B.S. and Boycott, K.M. (2009) Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): clinical features of 63 individuals. Am. J. Med. Genet. A., 149A, 1712-1721.
    • (2009) Am. J. Med. Genet. A. , vol.149 A , pp. 1712-1721
    • Carter, M.T.1    St Pierre, S.A.2    Zackai, E.H.3    Emanuel, B.S.4    Boycott, K.M.5
  • 4
    • 0033847567 scopus 로고    scopus 로고
    • Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
    • Kurahashi, H., Shaikh, T.H., Zackai, E.H., Celle, L., Driscoll, D.A., Budarf, M.L. and Emanuel, B.S. (2000a) Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). Am. J. Hum. Genet., 67, 763-768.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 763-768
    • Kurahashi, H.1    Shaikh, T.H.2    Zackai, E.H.3    Celle, L.4    Driscoll, D.A.5    Budarf, M.L.6    Emanuel, B.S.7
  • 5
    • 0034234453 scopus 로고    scopus 로고
    • Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
    • Kurahashi, H., Shaikh, T.H., Hu, P., Roe, B.A., Emanuel, B.S. and Budarf, M.L. (2000b) Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum. Mol. Genet., 9, 1665-1670.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1665-1670
    • Kurahashi, H.1    Shaikh, T.H.2    Hu, P.3    Roe, B.A.4    Emanuel, B.S.5    Budarf, M.L.6
  • 9
    • 0035509701 scopus 로고    scopus 로고
    • Long AT-rich palindromes and the constitutional t(11;22) breakpoint
    • Kurahashi, H. and Emanuel, B.S. (2001a) Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum. Mol. Genet., 10, 2605-2617.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2605-2617
    • Kurahashi, H.1    Emanuel, B.S.2
  • 10
    • 0034790435 scopus 로고    scopus 로고
    • Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males
    • Kurahashi, H. and Emanuel, B.S. (2001b) Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nat. Genet., 29, 139-140.
    • (2001) Nat. Genet. , vol.29 , pp. 139-140
    • Kurahashi, H.1    Emanuel, B.S.2
  • 12
    • 0033358588 scopus 로고    scopus 로고
    • Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    • Edelmann, L., Pandita, R.K. and Morrow, B.E. (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet., 64, 1076-1086.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 15
    • 35649020743 scopus 로고    scopus 로고
    • Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm
    • Kato, T., Yamada, K., Inagaki, H., Kogo, H., Ohye, T., Emanuel, B.S. and Kurahashi, H. (2007) Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm. Fertil. Steril., 88, 1446-1448.
    • (2007) Fertil. Steril. , vol.88 , pp. 1446-1448
    • Kato, T.1    Yamada, K.2    Inagaki, H.3    Kogo, H.4    Ohye, T.5    Emanuel, B.S.6    Kurahashi, H.7
  • 16
    • 34447564992 scopus 로고    scopus 로고
    • Mutation rate variation in multicellular eukaryotes: causes and consequences
    • Baer, C.F., Miyamoto, M.M. and Denver, D.R. (2007) Mutation rate variation in multicellular eukaryotes: causes and consequences. Nat. Rev. Genet., 8, 619-631.
    • (2007) Nat. Rev. Genet. , vol.8 , pp. 619-631
    • Baer, C.F.1    Miyamoto, M.M.2    Denver, D.R.3
  • 19
    • 0028674914 scopus 로고
    • Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair
    • Leach, D.R. (1994) Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair. Bioessays, 16, 893-900.
    • (1994) Bioessays , vol.16 , pp. 893-900
    • Leach, D.R.1
  • 20
    • 0034967389 scopus 로고    scopus 로고
    • Evidence for two mechanisms of palindrome-stimulated deletion in Escherichia coli: single-strand annealing and replication slipped mispairing
    • Bzymek, M. and Lovett, S.T. (2001) Evidence for two mechanisms of palindrome-stimulated deletion in Escherichia coli: single-strand annealing and replication slipped mispairing. Genetics, 158, 527-540.
    • (2001) Genetics , vol.158 , pp. 527-540
    • Bzymek, M.1    Lovett, S.T.2
  • 21
    • 0037169325 scopus 로고    scopus 로고
    • The Mre11 complex is required for repair of hairpin-capped double-strand breaks and prevention of chromosome rearrangements
    • Lobachev, K.S., Gordenin, D.A. and Resnick, M.A. (2002) The Mre11 complex is required for repair of hairpin-capped double-strand breaks and prevention of chromosome rearrangements. Cell, 108, 183-193.
    • (2002) Cell , vol.108 , pp. 183-193
    • Lobachev, K.S.1    Gordenin, D.A.2    Resnick, M.A.3
  • 23
    • 14844286404 scopus 로고    scopus 로고
    • Chromosomal translocations in yeast induced by low levels of DNA polymerase a model for chromosome fragile sites
    • Lemoine, F.J., Degtyareva, N.P., Lobachev, K. and Petes, T.D. (2005) Chromosomal translocations in yeast induced by low levels of DNA polymerase a model for chromosome fragile sites. Cell, 120, 587-598.
    • (2005) Cell , vol.120 , pp. 587-598
    • Lemoine, F.J.1    Degtyareva, N.P.2    Lobachev, K.3    Petes, T.D.4
  • 24
    • 4143085977 scopus 로고    scopus 로고
    • Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations
    • Kurahashi, H., Inagaki, H., Yamada, K., Ohye, T., Taniguchi, M., Emanuel, B.S. and Toda, T. (2004) Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J. Biol. Chem., 279, 35377-35383.
    • (2004) J. Biol. Chem. , vol.279 , pp. 35377-35383
    • Kurahashi, H.1    Inagaki, H.2    Yamada, K.3    Ohye, T.4    Taniguchi, M.5    Emanuel, B.S.6    Toda, T.7
  • 25
    • 34047101901 scopus 로고    scopus 로고
    • Cruciform extrusion propensity of human translocationmediating palindromic AT-rich repeats
    • Kogo, H., Inagaki, H., Ohye, T., Kato, T., Emanuel, B.S. and Kurahashi, H. (2007) Cruciform extrusion propensity of human translocationmediating palindromic AT-rich repeats. Nucleic Acids Res., 35, 1198-1208.
    • (2007) Nucleic Acids Res , vol.35 , pp. 1198-1208
    • Kogo, H.1    Inagaki, H.2    Ohye, T.3    Kato, T.4    Emanuel, B.S.5    Kurahashi, H.6
  • 26
    • 59949101230 scopus 로고    scopus 로고
    • Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans
    • Inagaki, H., Ohye, T., Kogo, H., Kato, T., Bolor, H., Taniguchi, M., Shaikh, T.H., Emanuel, B.S. and Kurahashi, H. (2009) Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans. Genome Res., 19, 191-198.
    • (2009) Genome Res , vol.19 , pp. 191-198
    • Inagaki, H.1    Ohye, T.2    Kogo, H.3    Kato, T.4    Bolor, H.5    Taniguchi, M.6    Shaikh, T.H.7    Emanuel, B.S.8    Kurahashi, H.9
  • 27
    • 25444455882 scopus 로고    scopus 로고
    • A palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved among primates
    • Inagaki, H., Ohye, T., Kogo, H., Yamada, K., Kowa, H., Shaikh, T.H., Emanuel, B.S. and Kurahashi, H. (2005) A palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved among primates. Hum. Mutat., 26, 332-342.
    • (2005) Hum. Mutat. , vol.26 , pp. 332-342
    • Inagaki, H.1    Ohye, T.2    Kogo, H.3    Yamada, K.4    Kowa, H.5    Shaikh, T.H.6    Emanuel, B.S.7    Kurahashi, H.8
  • 28
    • 0347287037 scopus 로고    scopus 로고
    • A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2
    • Gotter, A.L., Shaikh, T.H., Budarf, M.L., Rhodes, C.H. and Emanuel, B.S. (2004) A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum. Mol. Genet., 13, 103-115.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 103-115
    • Gotter, A.L.1    Shaikh, T.H.2    Budarf, M.L.3    Rhodes, C.H.4    Emanuel, B.S.5
  • 29
    • 34147119249 scopus 로고    scopus 로고
    • AT-rich repeats associated with chromosome 22q11. 2 rearrangement disorders shape human genome architecture on Yq12
    • Babcock, M., Yatsenko, S., Stankiewicz, P., Lupski, J.R. and Morrow, B.E. (2007) AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res., 17, 451-460.
    • (2007) Genome Res , vol.17 , pp. 451-460
    • Babcock, M.1    Yatsenko, S.2    Stankiewicz, P.3    Lupski, J.R.4    Morrow, B.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.