{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T10:58:19Z","timestamp":1789988299548,"version":"4.0.1"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,6,19]],"date-time":"2014-06-19T00:00:00Z","timestamp":1403136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"a Grant-in-Aid for Scientific Research (KAKENHI)","award":["24590715"],"award-info":[{"award-number":["24590715"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>We detected low levels of acetylation for histone H3 tail lysines in malignant mesothelioma (MM) cell lines resistant to histone deacetylase inhibitors. To identify the possible genetic causes related to the low histone acetylation levels, whole\u2010exome sequencing was conducted with MM cell lines established from eight patients. A mono\u2010allelic variant of <jats:italic>BRD1<\/jats:italic> was common to two MM cell lines with very low acetylation levels. We identified 318 homozygous protein\u2010damaging variants\/mutations (18\u201378 variants\/mutations per patient); annotation analysis showed enrichment of the molecules associated with mammalian SWI\/SNF (mSWI\/SNF) chromatin remodeling complexes and co\u2010activators that facilitate initiation of transcription. In seven of the patients, we detected a combination of variants in histone modifiers or transcription factors\/co\u2010factors, in addition to variants in mSWI\/SNF. Direct sequencing showed that homozygous mutations in <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>PBRM1<\/jats:italic> and <jats:italic>ARID2<\/jats:italic> were somatic. In one patient, homozygous germline variants were observed for <jats:italic>SMARCC1<\/jats:italic> and <jats:italic>SETD2<\/jats:italic> in chr3p22.1\u20133p14.2. These exhibited extended germline homozygosity and were in regions containing somatic mutations, leading to a loss of BAP1 and PBRM1 expression in MM cell line. Most protein\u2010damaging variants were heterozygous in normal tissues. Heterozygous germline variants were often converted into hemizygous variants by mono\u2010allelic deletion, and were rarely homozygous because of acquired uniparental disomy. Our findings imply that MM might develop through the somatic inactivation of mSWI\/SNF complex subunits and\/or histone modifiers, including <jats:italic>BAP1<\/jats:italic>, in subjects that have rare germline variants of these transcription regulators and\/or transcription factors\/co\u2010factors, and in regions prone to mono\u2010allelic deletion during oncogenesis.<\/jats:p>","DOI":"10.1002\/ijc.29015","type":"journal-article","created":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T13:52:41Z","timestamp":1402408361000},"page":"560-571","source":"Crossref","is-referenced-by-count":34,"title":["Biallelic germline and somatic mutations in malignant mesothelioma: Multiple mutations in transcription regulators including mSWI\/SNF genes"],"prefix":"10.1002","volume":"136","author":[{"given":"Yoshie","family":"Yoshikawa","sequence":"first","affiliation":[{"name":"Department of Genetics Hyogo College of Medicine Nishinomiya Hyogo 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