Recurrent rearrangements in the proximal 15q11-q14 region: A new breakpoint cluster specific to unbalanced translocations

Cécile Mignon-Ravix, Danielle Depetris, Judith J. Luciani, Cristina Cuoco, Malgorzata Krajewska-Walasek, Chantal Missirian, Patrick Collignon, Bruno Delobel, M. F. Croquette, Anne Moncla, Peter M. Kroisel, M. G. Mattei

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45 chromosomes with monosomy of the proximal 15q imprinted region. Here, we present our analysis of eight such unbalanced translocations that, depending on the parental origin of the rearranged chromosome, were associated with either Prader-Willi or Angelman syndrome. First, using FISH with specific BAC clones, we characterized the chromosome 15 breakpoint of each translocation and demonstrate that four of them are clustered in a small 460kb interval located in the proximal 15q14 band. Second, analyzing the sequence of this region, we demonstrate the proximity of a low-copy repeat 15 (LCR15)-duplicon element that is known to facilitate recombination events at meiosis and to promote rearrangements. The presence, in this region, of both a cluster of translocation breakpoints and a LCR15-duplicon element defines a new breakpoint cluster (BP6), which, to our knowledge, is the most distal breakpoint cluster described in proximal 15q. Third, we demonstrate that the breakpoints for other rearrangements including large inv dup (15) chromosomes do not map to BP6, suggesting that it is specific to translocations. Finally, the translocation breakpoints located within BP6 result in very large proximal 15q deletions providing new informative genotype-phenotype correlations.

Original languageEnglish
Pages (from-to)432-440
Number of pages9
JournalEuropean Journal of Human Genetics
Volume15
Issue number4
DOIs
Publication statusPublished - Apr 2007

Fingerprint

Genomic Segmental Duplications
Chromosomes
Chromosomes, Human, Pair 15
Chromosome Breakpoints
Angelman Syndrome
Prader-Willi Syndrome
Monosomy
Meiosis
Genetic Association Studies
Karyotype
Genetic Recombination
Clone Cells

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Mignon-Ravix, C., Depetris, D., Luciani, J. J., Cuoco, C., Krajewska-Walasek, M., Missirian, C., ... Mattei, M. G. (2007). Recurrent rearrangements in the proximal 15q11-q14 region: A new breakpoint cluster specific to unbalanced translocations. European Journal of Human Genetics, 15(4), 432-440. https://doi.org/10.1038/sj.ejhg.5201775

Recurrent rearrangements in the proximal 15q11-q14 region : A new breakpoint cluster specific to unbalanced translocations. / Mignon-Ravix, Cécile; Depetris, Danielle; Luciani, Judith J.; Cuoco, Cristina; Krajewska-Walasek, Malgorzata; Missirian, Chantal; Collignon, Patrick; Delobel, Bruno; Croquette, M. F.; Moncla, Anne; Kroisel, Peter M.; Mattei, M. G.

In: European Journal of Human Genetics, Vol. 15, No. 4, 04.2007, p. 432-440.

Research output: Contribution to journalArticle

Mignon-Ravix, C, Depetris, D, Luciani, JJ, Cuoco, C, Krajewska-Walasek, M, Missirian, C, Collignon, P, Delobel, B, Croquette, MF, Moncla, A, Kroisel, PM & Mattei, MG 2007, 'Recurrent rearrangements in the proximal 15q11-q14 region: A new breakpoint cluster specific to unbalanced translocations', European Journal of Human Genetics, vol. 15, no. 4, pp. 432-440. https://doi.org/10.1038/sj.ejhg.5201775
Mignon-Ravix, Cécile ; Depetris, Danielle ; Luciani, Judith J. ; Cuoco, Cristina ; Krajewska-Walasek, Malgorzata ; Missirian, Chantal ; Collignon, Patrick ; Delobel, Bruno ; Croquette, M. F. ; Moncla, Anne ; Kroisel, Peter M. ; Mattei, M. G. / Recurrent rearrangements in the proximal 15q11-q14 region : A new breakpoint cluster specific to unbalanced translocations. In: European Journal of Human Genetics. 2007 ; Vol. 15, No. 4. pp. 432-440.
@article{7e70e6a98bbc47e98aaee94e59f52adf,
title = "Recurrent rearrangements in the proximal 15q11-q14 region: A new breakpoint cluster specific to unbalanced translocations",
abstract = "Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45 chromosomes with monosomy of the proximal 15q imprinted region. Here, we present our analysis of eight such unbalanced translocations that, depending on the parental origin of the rearranged chromosome, were associated with either Prader-Willi or Angelman syndrome. First, using FISH with specific BAC clones, we characterized the chromosome 15 breakpoint of each translocation and demonstrate that four of them are clustered in a small 460kb interval located in the proximal 15q14 band. Second, analyzing the sequence of this region, we demonstrate the proximity of a low-copy repeat 15 (LCR15)-duplicon element that is known to facilitate recombination events at meiosis and to promote rearrangements. The presence, in this region, of both a cluster of translocation breakpoints and a LCR15-duplicon element defines a new breakpoint cluster (BP6), which, to our knowledge, is the most distal breakpoint cluster described in proximal 15q. Third, we demonstrate that the breakpoints for other rearrangements including large inv dup (15) chromosomes do not map to BP6, suggesting that it is specific to translocations. Finally, the translocation breakpoints located within BP6 result in very large proximal 15q deletions providing new informative genotype-phenotype correlations.",
author = "C{\'e}cile Mignon-Ravix and Danielle Depetris and Luciani, {Judith J.} and Cristina Cuoco and Malgorzata Krajewska-Walasek and Chantal Missirian and Patrick Collignon and Bruno Delobel and Croquette, {M. F.} and Anne Moncla and Kroisel, {Peter M.} and Mattei, {M. G.}",
year = "2007",
month = "4",
doi = "10.1038/sj.ejhg.5201775",
language = "English",
volume = "15",
pages = "432--440",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "4",

}

TY - JOUR

T1 - Recurrent rearrangements in the proximal 15q11-q14 region

T2 - A new breakpoint cluster specific to unbalanced translocations

AU - Mignon-Ravix, Cécile

AU - Depetris, Danielle

AU - Luciani, Judith J.

AU - Cuoco, Cristina

AU - Krajewska-Walasek, Malgorzata

AU - Missirian, Chantal

AU - Collignon, Patrick

AU - Delobel, Bruno

AU - Croquette, M. F.

AU - Moncla, Anne

AU - Kroisel, Peter M.

AU - Mattei, M. G.

PY - 2007/4

Y1 - 2007/4

N2 - Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45 chromosomes with monosomy of the proximal 15q imprinted region. Here, we present our analysis of eight such unbalanced translocations that, depending on the parental origin of the rearranged chromosome, were associated with either Prader-Willi or Angelman syndrome. First, using FISH with specific BAC clones, we characterized the chromosome 15 breakpoint of each translocation and demonstrate that four of them are clustered in a small 460kb interval located in the proximal 15q14 band. Second, analyzing the sequence of this region, we demonstrate the proximity of a low-copy repeat 15 (LCR15)-duplicon element that is known to facilitate recombination events at meiosis and to promote rearrangements. The presence, in this region, of both a cluster of translocation breakpoints and a LCR15-duplicon element defines a new breakpoint cluster (BP6), which, to our knowledge, is the most distal breakpoint cluster described in proximal 15q. Third, we demonstrate that the breakpoints for other rearrangements including large inv dup (15) chromosomes do not map to BP6, suggesting that it is specific to translocations. Finally, the translocation breakpoints located within BP6 result in very large proximal 15q deletions providing new informative genotype-phenotype correlations.

AB - Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45 chromosomes with monosomy of the proximal 15q imprinted region. Here, we present our analysis of eight such unbalanced translocations that, depending on the parental origin of the rearranged chromosome, were associated with either Prader-Willi or Angelman syndrome. First, using FISH with specific BAC clones, we characterized the chromosome 15 breakpoint of each translocation and demonstrate that four of them are clustered in a small 460kb interval located in the proximal 15q14 band. Second, analyzing the sequence of this region, we demonstrate the proximity of a low-copy repeat 15 (LCR15)-duplicon element that is known to facilitate recombination events at meiosis and to promote rearrangements. The presence, in this region, of both a cluster of translocation breakpoints and a LCR15-duplicon element defines a new breakpoint cluster (BP6), which, to our knowledge, is the most distal breakpoint cluster described in proximal 15q. Third, we demonstrate that the breakpoints for other rearrangements including large inv dup (15) chromosomes do not map to BP6, suggesting that it is specific to translocations. Finally, the translocation breakpoints located within BP6 result in very large proximal 15q deletions providing new informative genotype-phenotype correlations.

UR - http://www.scopus.com/inward/record.url?scp=33947647383&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33947647383&partnerID=8YFLogxK

U2 - 10.1038/sj.ejhg.5201775

DO - 10.1038/sj.ejhg.5201775

M3 - Article

C2 - 17264869

AN - SCOPUS:33947647383

VL - 15

SP - 432

EP - 440

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 4

ER -