Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations
Tóm tắt
Từ khóa
Tài liệu tham khảo
Bandyopadhyay R, Berend SA, Page SL, Choo KH, Shaffer LG (2001a) Satellite III sequences on 14p and their relevance to Robertsonian translocation formation. Chromosome Res 9:235–242
Bandyopadhyay R, McQuillan C, Page SL, Choo KH, Shaffer LG (2001b) Identification and characterization of satellite III subfamilies to the acrocentric chromosomes. Chromosome Res 9:223–233
Choo KH, Vissel B, Brown R, Filby RG, Earle E (1988) Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations. Nucleic Acids Res 16:1273–1284
Choo KH, Earle E, McQuillan C (1990) A homologous subfamily of satellite III DNA on human chromosomes 14 and 22. Nucleic Acids Res 18:5641–5648
Choo KH, Earle E, Vissel B, Kalitsis P (1992) A chromosome 14-specific human satellite III DNA subfamily that shows variable presence on different chromosomes 14. Am J Hum Genet 50:706–716
Earle E, Shaffer LG, Kalitsis P, McQuillan C, Dale S, Choo KH (1992) Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations. Am J Hum Genet 50:717–724
Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG (2005) Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet 13:139–149
Gosden JR, Gosden CM, Lawrie SS, Buckton KE (1979) Satellite DNA loss and nucleolar organiser activity in an individual with a de novo chromosome 13,14 translocation. Clin Genet 15:518–529
Gosden JR, Lawrie SS, Gosden CM (1981) Satellite DNA sequences in the human acrocentric chromosomes: information from translocations and heteromorphisms. Am J Hum Genet 33:243–251
Gravholt CH, Friedrich U, Caprani M, Jorgensen AL (1992) Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization. Genomics 14:924–930
Han JY, Choo KH, Shaffer LG (1994) Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints. Am J Hum Genet 55:960–967
Jarmuz-Szymczak M (2011) Short arm of chromosome 21 analysis in breakpoint regions in the most frequent human Robertsonian translocations and primate genomes. Poznan University of Medical Sciences, Poznan
Kalitsis P, Earle E, Vissel B, Shaffer LG, Choo KH (1993) A chromosome 13-specific human satellite I DNA subfamily with minor presence on chromosome 21: further studies on Robertsonian translocations. Genomics 16:104–112
Lyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S, Zhu B, Eyras E, Castelo R, Bird CP, Gagos S, Scott C, Cox A, Deutsch S, Ucla C, Cruts M, Dahoun S, She X, Bena F, Wang SY, Van Broeckhoven C, Eichler EE, Guigo R, Rogers J, de Jong PJ, Reymond A, Antonarakis SE (2007) Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res 17:1690–1696
Mattei MG, Mattei JF, Ayme S, Giraud F (1979) Dicentric Robertsonian translocation in man. 17 cases studied by R, C, and N banding. Hum Genet 50:33–38
Page SL, Shaffer LG (1997) Nonhomologous Robertsonian translocations form predominantly during female meiosis. Nat Genet 15:231–232
Page SL, Shin JC, Han JY, Choo KH, Shaffer LG (1996) Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 5:1279–1288
Shaffer LG (2002) Robertsonian translocations. In: Creighton TE (ed) Wiley Encyclopedia of Molecular Medicine, vol 5. John Wiley & Sons Inc, NJ, pp 2845–2847
Shaffer LG, McCaskill C, Han JY, Choo KH, Cutillo DM, Donnenfeld AE, Weiss L, Van Dyke DL (1994) Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968–974
Therman E, Susman B, Denniston C (1989) The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet 53:49–65
Waye JS, Willard HF (1989) Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA. Proc Natl Acad Sci U S A 86:6250–6254
Wolff DJ, Schwartz S (1992) Characterization of Robertsonian translocations by using fluorescence in situ hybridization. Am J Hum Genet 50:174–181
Worton RG, Sutherland J, Sylvester JE, Willard HF, Bodrug S, Dube I, Duff C, Kean V, Ray PN, Schmickel RD (1988) Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5ʹ end. Science 239:64–68
Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O’Brien WE, Beaudet AL (1989) Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet 44:255–263