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Human Molecular Genetics, 2003, Vol. 12, No. 8 849-858
DOI: 10.1093/hmg/ddg101
© 2003 Oxford University Press

Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

Giorgio Gimelli1, Miguel Angel Pujana2,{dagger}, Maria Grazia Patricelli3, Silvia Russo4, Daniela Giardino4, Lidia Larizza4,5, Joseph Cheung6, Lluís Armengol2, Albert Schinzel7, Xavier Estivill2,6,8,* and Orsetta Zuffardi3,9

1Laboratorio di Citogenetica, Istituto G. Gaslini, Genova, Italy, 2Programa Gens i Malaltia, Centre de Regulació Genòmica, Barcelona, Catalonia, Spain, 3Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy, 4Laboratorio di Citogenetica and Genetica Molecolare, Istituto Auxologico, Milano, Italy, 5Dipartimeto di Biologia e Genetica, Università di Milano, Milano, Italy, 6Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, 7Institute of Medical Genetics der Univiersitat Zurich, Zurich, Switzerland, 8Departament de Ciencies Experimentals i de la Vida, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain and 9IRCCS Policlinico San Matteo, Pavia, Italy

Received December 9, 2002; Revised January 30, 2003; Accepted February 14, 2003

Parental submicroscopic genomic inversions have recently been demonstrated to be present in several genomic disorders. These inversions are genomic polymorphisms that facilitate misalignment and abnormal recombination between flanking segmental duplications. Angelman syndrome (AS; MIM 105830) is associated with specific abnormalities of chromosome 15q11–q13, with about 70% of cases being mother-of-origin 4 Mb deletions. We present here evidence that some mothers of AS patients with deletions of the 15q11–q13 region have a heterozygous inversion involving the region that is deleted in the affected offspring. The inversion was detected in the mothers of four of six AS cases with the breakpoint 2–3 (BP2/3) 15q11–q13 deletion, but not in seven mothers of AS due to paternal uniparental disomy (UPD) 15. We have identified variable inversion breakpoints within BP segmental duplications in the inverted AS mothers, as well as in AS deleted patients. Interestingly, the BP2–BP3 region is inverted in the mouse draft genome sequence with respect to the human draft sequence. The BP2–BP3 chromosome 15q11–q13 inversion was detected in four of 44 subjects (9%) of the general population (P<0.004). The BP2/3 inversion should be an intermediate estate that facilitates the occurrence of 15q11–q13 BP2/3 deletions in the offspring.

* To whom correspondence should be addressed at: Program in Genes and Disease, Center for Genomic Regulation (CRG), Passeig Marítim 37-49, 08003 Barcelona, Catalonia, Spain. Tel: +34 932240009; Fax: +34 932240089; Email: xavier.estivill{at}crg.es

{dagger} Present address: Cancer Biology Department, Dana-Farber Cancer Institute, Boston, MA 02115, USA.


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