{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T17:56:57Z","timestamp":1772819817892,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":5670,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Although some cases of the syndrome of hereditary persistence of fetal hemoglobin (HPFH) have been correlated with mutations causing a change in the binding of trans\u2010acting factors to DNA sequences flanking the \u03b3\u2010globin gene, this mechanism has not been described in \u03b2\u2010thalassemias upstream of the canonical promoter of the \u03b2\u2010globin gene. In this report we describe such a change in binding of a protein that may explain a silent carrier phenotype of \u03b2\u2010thalassemia. We have previously demonstrated the binding of a protein (BP1) derived from a nuclear extract of human K562 cells to DNA 5\u2032 to the human \u03b2\u2010globin gene in a region having a negative regulatory function. The binding of BP1 in this region can be detected by DNAse I footprinting and by gel mobility shift analysis. We have now compared binding of BP1 to the normal sequence and a mutated sequence (+ATA\/\u2010T at \u2212530 bp from the cap site) from the silent carrier of \u03b2\u2010thalassemia. Using mobility shift assays we show that BP1 binds about nine times more strongly to the mutated sequence than the normal sequence. These results suggest the possibility that the decreased expression of the \u03b2\u2010globin gene exhibited by the carrier may be due, at least in part, to tighter binding of a protein which functions as a negative control element or represser.<\/jats:p>","DOI":"10.1002\/ajh.2830360109","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T12:09:00Z","timestamp":1172059740000},"page":"42-47","source":"Crossref","is-referenced-by-count":46,"title":["Increased protein binding to a \u2212530 mutation of the human \u03b2\u2010globin gene associated with decreased \u03b2\u2010globin synthesis"],"prefix":"10.1002","volume":"36","author":[{"given":"Patricia E.","family":"Berg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moshe","family":"Mittelman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Elion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Labie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan N.","family":"Schechter","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","volume-title":"\u201cThe Thalassemia Syndromes","author":"Weatherall DJ","year":"1981"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1182\/blood.V63.4.738.738","article-title":"Advances in thalassemia research","volume":"63","author":"Nienhuis AW","year":"1984","journal-title":"Blood"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1182\/blood.V72.4.1107.1107","article-title":"Review: molecular basis and prenatal diagnosis of \u03b2\u2010thalassemia","volume":"72","author":"Kazazian HH","year":"1988","journal-title":"Blood"},{"key":"e_1_2_1_5_2","first-page":"66","volume-title":"\u201cThe Molecular Basis of Blood Diseases","author":"Stamatoyannopoulos G","year":"1987"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.24.10231"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.10.1.95"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(84)90197-1"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.20.7056"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.14.5739"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.7.11.4024"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1988.tb02824.x"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1988.tb03317.x"},{"key":"e_1_2_1_14_2","first-page":"1","volume-title":"\u201cHemoglobin Switching, Part A","author":"Wall L","year":"1989"},{"key":"e_1_2_1_15_2","first-page":"193","volume-title":"\u201cHemoglobin Switching, Part A","author":"Berg PE","year":"1989"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.21.8833"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.24.7551"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1988.tb14028.x"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/280164a0"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(80)91311-X"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.6.3509"},{"issue":"1","key":"e_1_2_1_22_2","first-page":"143a","article-title":"Is the polymorphism 0.5 kb 5\u2032 to the \u03b2\u2010globin gene relevant to \u03b2s gene expression?","volume":"74","author":"Elion J","year":"1989","journal-title":"Blood"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268908998048"},{"key":"e_1_2_1_24_2","first-page":"307a","article-title":"The \u2212530 mutation of a \u03b2\u2010thalassemia carrier causes increases binding of a protein at that site","volume":"74","author":"Berg PE","year":"1989","journal-title":"Blood"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/11.5.1475"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(84)90424-0"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1038\/339446a0"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268808991644"},{"key":"e_1_2_1_29_2","volume-title":"Genes III","author":"Lewin B","year":"1987"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/322697a0"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(85)80091-X"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.8.1.210"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(86)90233-7"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.5.1447"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830360109","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830360109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T06:34:53Z","timestamp":1698042893000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830360109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/ajh.2830360109"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830360109","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}