whole exome sequencing in a random sample of north american women with leiomyomas identifies med12 mutations in majority of uterine leiomyomas全外显子组测序在北美平滑肌瘤的女性的一个随机样本识别med12基因突变在多数子宫平滑肌瘤.pdfVIP

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whole exome sequencing in a random sample of north american women with leiomyomas identifies med12 mutations in majority of uterine leiomyomas全外显子组测序在北美平滑肌瘤的女性的一个随机样本识别med12基因突变在多数子宫平滑肌瘤.pdf

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whole exome sequencing in a random sample of north american women with leiomyomas identifies med12 mutations in majority of uterine leiomyomas全外显子组测序在北美平滑肌瘤的女性的一个随机样本识别med12基因突变在多数子宫平滑肌瘤

Whole Exome Sequencing in a Random Sample of North American Women with Leiomyomas Identifies MED12 Mutations in Majority of Uterine Leiomyomas 1 1 1 2 1 Megan M. McGuire , Alexander Yatsenko , Lori Hoffner , Mirka Jones , Urvashi Surti , Aleksandar Rajkovic1* 1 Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America, 2 Department of Gynecologic Pathology, Magee-Womens Hospital of UPMC, Pittsburgh, Pennsylvania, United States of America Abstract Uterine leiomyomas (uterine fibroids) arise from smooth muscle tissue in the majority of women by age 45. It is common for these clonal tumors to develop from multiple locations within the uterus, leading to a variety of symptoms such as pelvic pain, abnormal uterine bleeding, and infertility. We performed whole exome sequencing on genomic DNA from five pairs of leiomyomas and corresponding normal myometrium to determine genetic variations unique to leiomyomas. Whole exome sequencing revealed that the gene encoding transcription factor MED12 (Mediator complex subunit 12) harbored heterozygous missense mutations caused by single nucleotide variants in highly conserved codon 44 of exon 2 in two of five leiomyomas. Sanger re-sequencing of MED12 among these five leiomyomas confirmed the two single nucleotide variants and detected a 42 base-pair deletion within exon 2 of MED12 in a third leiomyoma. MED12 was sequenced in an additional 143 leiomyomas and 73 normal myometrial tissues. Overall, MED12 was mutated in 100/148 (67%) of the genotyped leiomyomas: 79/148 (53%) leiomyomas exhibited heterozygous missense single nucleotide variants, 17/