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Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements

Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., Antshel, Kevin, Arango, Celso, Armando, Marco, Bassett, Anne, Bearden, Carrie, Boot, Erik, Bravo-Sanchez, Marta, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Campbell, Linda, Carmel, Miri, Chow, Eva, Crowley, T. Blaine, Cubells, Joseph, Cutler, David, Demaerel, Wolfram, Digilio, Maria Cristina, Duijff, Sasja, Eliez, Stephan, Emanuel, Beverly, Epstein, Michael, Evers, Rens, Fernandez Garcia-Moya, Luis, Fiksinski, Ania, Fraguas, David, Fremont, Wanda, Fritsch, Rosemarie, Garcia-Minaur, Sixto, Golden, Aaron, Gothelf, Doron, Guo, Tingwei, Gur, Ruben, Gur, Raquel, Heine-Suner, Damian, Hestand, Matthew, Hooper, Stephen, Kates, Wendy, Kushan, Leila, Laorden-Nieto, Alejandra, Maeder, Johanna, Marino, Bruno, Marshall, Christian, McCabe, Kathryn, McDonald-McGinn, Donna, Michaelovosky, Elena, Morrow, Bernice, Moss, Edward, Mulle, Jennifer, Murphy, Declan, Murphy, Kieran, Murphy, Clodagh, Niarchou, Maria, Ornstein, Claudia, Owen, Michael J., Philip, Nicole, Repetto, Gabriela, Schneider, Maude, Shashi, Vandana, Simon, Tony, Swillen, Ann, Tassone, Flora, Unolt, Marta, van Amelsvoort, Therese, van den Bree, Marianne, Van Duin, Esther, Vergaelen, Elfi, Vermeesch, Joris, Vicari, Stefano, Vingerhoets, Claudia, Vorstman, Jacob, Warren, Steve, Weinberger, Ronnie, Weisman, Omri, Weizman, Abraham, Zackai, Elaine, Zhang, Zhengdong and Zwick, Michael 2017. Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements. American Journal of Human Genetics 101 (4) , pp. 616-622. 10.1016/j.ajhg.2017.09.002

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Abstract

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Elsevier (Cell Press)
ISSN: 0002-9297
Date of First Compliant Deposit: 30 April 2018
Date of Acceptance: 16 August 2017
Last Modified: 28 Apr 2019 12:36
URI: http://orca-mwe.cf.ac.uk/id/eprint/111069

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