{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T14:28:27Z","timestamp":1781101707333,"version":"3.54.1"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"9","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1979,9]]},"abstract":"<jats:p>We have studied somatic cell hybrids between thymidine kinase (EC 2.7.1.75) deficient mouse cells and human diploid fibroblasts for the expression of human acid \u03b1-glucosidase (EC 3.2.1.20). A deficiency in this enzyme is associated with the type II glycogenosis or Pompe disease. All 30 somatic cell hybrids selected in hypoxanthine\/aminopterin\/thymidine medium expressed human acid \u03b1-glucosidase and galactokinase (EC 2.7.1.6) and retained human chromosome 17; counterselection of the same hybrids in medium containing 5-bromodeoxyuridine resulted in the growth of hybrids that concordantly lost the expression of human acid \u03b1-glucosidase and galactokinase as well as human chromosome 17. Hybrids between thymidine kinase-deficient mouse cells and fibroblasts from a patient with Pompe disease that contained human chromosome 17 were found not to express human acid \u03b1-glucosidase. Because we have already shown that hybrids between mouse peritoneal macrophages and GM54VA simian virus 40-transformed human cells selectively retain human chromosome 17 and lose all other human chromosomes, we tested 13 independent mouse macrophage \u00d7 GM54VA hybrid clones, including two that retained human chromosome 17 and no other human chromosomes, for the expression of human acid \u03b1-glucosidase and galactokinase. All 13 hybrid clones were found to express these human enzymes. Thus, we conclude that the gene coding for human acid \u03b1-glucosidase is located on human chromosome 17.<\/jats:p>","DOI":"10.1073\/pnas.76.9.4526","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T04:03:12Z","timestamp":1149048192000},"page":"4526-4529","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":35,"title":["Genetics of type II glycogenosis: Assignment of the human gene for acid \u03b1-glucosidase to chromosome 17"],"prefix":"10.1073","volume":"76","author":[{"given":"Gian G.","family":"D'Ancona","sequence":"first","affiliation":[{"name":"The Wistar Institute of Anatomy and Biology, 36th and Spruce Streets, Philadelphia, Pennsylvania 19104"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Wurm","sequence":"additional","affiliation":[{"name":"The Wistar Institute of Anatomy and Biology, 36th and Spruce Streets, Philadelphia, Pennsylvania 19104"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo M.","family":"Croce","sequence":"additional","affiliation":[{"name":"The Wistar Institute of Anatomy and Biology, 36th and Spruce Streets, Philadelphia, Pennsylvania 19104"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1979,9]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.76.9.4526","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T11:30:54Z","timestamp":1649849454000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.76.9.4526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,9]]},"references-count":0,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1979,9]]}},"alternative-id":["10.1073\/pnas.76.9.4526"],"URL":"https:\/\/doi.org\/10.1073\/pnas.76.9.4526","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,9]]},"assertion":[{"value":"1979-09-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}