{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T17:10:09Z","timestamp":1698253809951},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":5245,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1992,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a black family with members having \u03b1\u2010thalassemia and hemoglobin H (HbH) disease, a deletion of an AG dinucleotide at the 3\u2032 end of exon 1 near the junction with intron 1 was shown previously to produce a dysfunctional \u03b1\u2010thalassemia gene with a reading frame\u2010shift and a nonsense codon (Safaya S, Rieder RF: <jats:italic>J Biol Chem<\/jats:italic> 263:4328\u20104332, 1988). We have found that the same mutation is responsible for \u03b1\u2010thalassemia and HbH disease in a second unrelated black family (Bellevue R, Dosik H, Rieder RF: <jats:italic>Br J Haematol<\/jats:italic> 41:193\u2010202, 1979). Despite the loss of two nucleotides from the consensus sequence at the 5\u2032 splice donor site of intron 1, studies employing an in vitro plasmid\u2010based expression system indicated that the mutant \u03b1\u2010globin mRNA was spliced normally and expressed in amounts equal to normal \u03b1\u2010globin mRNA in COS\u20107 cells. The correct processing of the mRNA in these studies is probably due to the presence of a tandem repeat of the affected AG dinucleotide. However, in reticulocytes from subjects bearing the mutant gene, we were unable to detect any of the abnormal mRNA. These findings suggest that there is accelerated post\u2010transcriptional loss of mRNA bearing a premature terminator codon.<\/jats:p>","DOI":"10.1002\/ajh.2830390307","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T13:05:31Z","timestamp":1172063131000},"page":"188-193","source":"Crossref","is-referenced-by-count":2,"title":["Studies on the in vitro and in vivo expression of a dysfunctional \u03b1\u2010 globin gene"],"prefix":"10.1002","volume":"39","author":[{"given":"Surinder","family":"Safaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Trauber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald F.","family":"Rieder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/251389a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/255255a0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6874"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1979.tb05848.x"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1016\/S0021-9258(18)68929-X","article-title":"Dysfunctional \u03b1\u2010Globin gene in Hemoglobin\u2010H disease in Blacks. 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