Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization

Jean Gogusev, J. Bouquet De Joliniere, Louise Telvi, Mireille Doussau, Stanislas du Manoir, Alexandre Stojkoski, M Levardon
In: Human Genetics · 1999 · vol. 105(5) , pp. 444–451 · doi:10.1007/s004399900174 · W4241301185
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Comparative genomic hybridization revealed recurrent DNA copy number losses on chromosomes 1p, 22q, 5p, 6q, 7p, 9q, and 16, with gains at 6q, 7q, and 17q in human endometriosis tissues.

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This study investigated genomic copy number alterations associated with endometriosis by performing comparative genomic hybridization on DNA from 18 manually dissected endometriotic tissue samples, aiming to identify chromosomal gains and losses involved in lesion development. The authors found recurrent copy number losses in 15 of 18 cases, with chromosome 1p and 22q losses each occurring in 50% of cases, plus additional common losses on 5p, 6q, 7p, 9q, 16, and a gain observed on 6q, 7q, and 17q in a subset. CGH findings were validated using dual-color FISH for regions on chromosomes 1, 7, and 22, showing that CGH-detected deletions corresponded to reduced signal proportions relative to centromeric labels. A limitation explicitly reflected in the validation results is that deletions were present in less than 30% of nuclei for cases with CGH loss, indicating mosaicism or partial involvement. This paper is centrally about endometriosis—identifying recurrent DNA copy number losses and gains in endometriotic lesions via CGH and FISH validation.

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Abstract. Endometriosis is characterized by infertility and pelvic pain in 10–15% of women of reproductive age. The genetic events involved in endometriotic cell expansion remain in large part unknown. To identify genomic changes involved in development of this disease, we examined a panel of 18 selected endometriotic tissues by comparative genomic hybridization (CGH), a molecular cytogenetic method that allows screening of the entire genome for chromosomal gains and/or losses. The study was performed on native, nonamplified DNA extracted from manually dissected endometriotic lesions. Recurrent copy number losses on several chromosomes were detected in 15 of 18 cases. Loss of chromosome 1p and 22q were detected in 50% of the cases. Additional common losses occurred on chromosomes 5p (33%), 6q (27%), 7p(22%), 9q (22%), 16 (22%) as well as on 17q in one case. Gain of DNA sequences were seen at 6q, 7q and 17q in three cases. To validate the CGH data, selective dual-color FISH was performed using probes for the deleted regions on chromosomes 1, 7 and 22 in parallel with the corresponding centromeric probes. Cases showing deletion by CGH all had two signals at 1p36, 7p22.1 and 22q12 in less than 30% of the nuclei in comparison to the double centromeric labels found in more than 85% of the cells. These findings indicate that genes localized to previously undescribed chromosomal regions play a role in development and progression of endometriosis. Similar content being viewed by others Author information Authors and Affiliations Additional information Electronic Publication Rights and permissions About this article Cite this article Gogusev, J., de Jolinière, J., Telvi, L. et al. Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization. Hum Genet 105, 444–451 (1999). https://doi.org/10.1007/s004399900174 Received: Accepted: Issue date: DOI: https://doi.org/10.1007/s004399900174

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endometriosis

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