{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T02:02:37Z","timestamp":1771466557691,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,5,13]],"date-time":"2015-05-13T00:00:00Z","timestamp":1431475200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000738","name":"U.S. Department of Veterans Affairs","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIH","award":["5 P30 RR032135"],"award-info":[{"award-number":["5 P30 RR032135"]}]},{"name":"COBRE Program of the National Center for Research Resources","award":["8 P30 GM 103498"],"award-info":[{"award-number":["8 P30 GM 103498"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Environ and Mol Mutagen"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>Molecular analysis of proaerolysin selected glycosylphosphatidylinositol anchor (GPI\u2010a) deficient isolates in the TK6 cell line was performed. Initial studies found that the expected X\u2010linked <jats:italic>PIGA<\/jats:italic> mutations were rare among the spontaneous isolates but did increase modestly after ethyl methane sulfate (EMS) treatment (but to only 50% of isolates). To determine the molecular bases of the remaining GPI\u2010a deficient isolates, real\u2010time analysis for all the 25 autosomal GPI\u2010a pathway genes was performed on the isolates without <jats:italic>PIGA<\/jats:italic> mutations, determining that <jats:italic>PIGL<\/jats:italic> mRNA was absent for many. Further analysis determined these isolates had several different homozygous deletions of the 5\u2032 region of <jats:italic>PIGL<\/jats:italic> (17p12\u2010p22) extending 5\u2032 (telomeric) through <jats:italic>NCOR1<\/jats:italic> and some into the <jats:italic>TTC19<\/jats:italic> gene (total deletion &gt;250,000 bp). It was determined that the TK6 parent had a hemizygous deletion in 17p12\u2010p22 (275,712 bp) extending from <jats:italic>PIGL<\/jats:italic> intron 2 into <jats:italic>TTC19<\/jats:italic> intron 7. Second hit deletions in the other allele in the GPI\u2010a deficient isolates led to the detected homozygous deletions. Several of the deletion breakpoints including the original first hit deletion were sequenced. As strong support for TK6 having a deletion, a number of the isolates without <jats:italic>PIGA<\/jats:italic> mutations nor homozygous <jats:italic>PIGL<\/jats:italic> deletions had point mutations in the <jats:italic>PIGL<\/jats:italic> gene. These studies show that the GPI\u2010a mutation studies using TK6 cell line could be a valuable assay detecting point and deletion mutations in two genes simultaneously. Environ. Mol. Mutagen. 56:663\u2013673, 2015. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/em.21953","type":"journal-article","created":{"date-parts":[[2015,5,13]],"date-time":"2015-05-13T11:47:01Z","timestamp":1431517621000},"page":"663-673","source":"Crossref","is-referenced-by-count":25,"title":["Both <scp><i>PIGA<\/i><\/scp> and <scp><i>PIGL<\/i><\/scp> mutations cause <scp>GPI<\/scp>\u2010a deficient isolates in the <scp>T<\/scp>k6 cell line"],"prefix":"10.1002","volume":"56","author":[{"given":"Janice A.","family":"Nicklas","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Vermont College of Medicine Burlington Vermont"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth W.","family":"Carter","sequence":"additional","affiliation":[{"name":"Center for Clinical and Translational Science Biomedical Informatics Unit University of Vermont Burlington 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