{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:56:09Z","timestamp":1761058569958},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,11,28]],"date-time":"2006-11-28T00:00:00Z","timestamp":1164672000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this report we examine the (AC)<jats:italic><jats:sub>n<\/jats:sub><\/jats:italic>(AT)<jats:italic><jats:sub>x<\/jats:sub><\/jats:italic>T<jats:italic><jats:sub>y<\/jats:sub><\/jats:italic> motif residing \u2212530 bp 5\u2032 upstream of the \u03b2\u2010globin gene in Chinese thalassaemic patients. This motif is a putative binding site for a repressor protein, termed beta protein 1 (BP1) (Berg et al., Nucleic Acids Res 1989;17:8833\u20138852). Variations in the (AC)<jats:italic><jats:sub>n<\/jats:sub><\/jats:italic>(AT)<jats:italic><jats:sub>x<\/jats:sub><\/jats:italic>T<jats:italic><jats:sub>y<\/jats:sub><\/jats:italic> repeats affect the binding affinity of BP1, thereby altering the expression of the \u03b2\u2010globin gene. Eight different configurations of this repeat motif are identified in our population of Chinese \u03b2\u2010thalassaemia patients. A (AC)<jats:sub>3<\/jats:sub>(AT)<jats:sub>7<\/jats:sub>T<jats:sub>5<\/jats:sub> motif was identified among these thalassaemia patients and its influence in \u03b2\u2010globin gene expression was studied using stable transfection assay in murine erythroleukemia (MEL) cells. Our data demonstrated that the (AC)<jats:sub>3<\/jats:sub>(AT)<jats:sub>7<\/jats:sub>T<jats:sub>5<\/jats:sub> motif has a moderately strong repressor effect on the expression of the cis\u2010linked \u03b2\u2010globin gene. The high affinity of BP1 for this motif may result in the suppression of the transcription of the \u03b2\u2010globin gene (Berg et al., Am J Hematol 1991;36:42\u201347). We postulate that silencer elements in the \u03b2\u2010globin promoter play an important role in modifying the clinical presentation of the disease. Am. J. Hematol., 2007. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.20836","type":"journal-article","created":{"date-parts":[[2006,11,28]],"date-time":"2006-11-28T20:33:13Z","timestamp":1164745993000},"page":"342-348","source":"Crossref","is-referenced-by-count":4,"title":["The study of sequence configuration and functional impact of the (AC)<i><sub>n<\/sub><\/i>(AT)<i><sub>x<\/sub><\/i>T<i><sub>y<\/sub><\/i> motif in human \u03b2\u2010globin gene promoter"],"prefix":"10.1002","volume":"82","author":[{"given":"P.K.","family":"Chan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.S.K.","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Philipsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.C.","family":"Tan\u2010Un","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,11,28]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705013361805"},{"key":"e_1_2_1_3_2","first-page":"510","volume-title":"Hematology","author":"Weatherall DJ","year":"1990"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2005.00416.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.7.4.694"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.12.7457"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.21.8833"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1182\/blood.V79.3.787.787","article-title":"DNA sequence variation in a negative control region 5\u2032 to the \u03b2\u2010globin gene correlates with the phenotypic expression of the \u03b2 s mutation","volume":"79","author":"Elion J","year":"1992","journal-title":"Blood"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0484"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(84)90197-1"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1182\/blood.V76.10.2164.2164","article-title":"A \u03b2\u2010thalassemia carrier with normal sequence within the \u03b2\u2010globin gene","volume":"76","author":"Murru S","year":"1990","journal-title":"Blood"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830360109"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.8.2505-2514.2002"},{"key":"e_1_2_1_14_2","doi-asserted-by":"crossref","first-page":"1974","DOI":"10.1182\/blood.V81.7.1974.1974","article-title":"The repeated sequence (AT)x(T)y upstream to the \u03b2\u2010globin gene is a simple polymorphism","volume":"81","author":"Galanello R","year":"1993","journal-title":"Blood"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00716-8"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1998.0202"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-120028884"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199901)60:1<27::AID-AJH6>3.0.CO;2-0"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.14.2823"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.20836","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.20836","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T17:26:23Z","timestamp":1699982783000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.20836"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,28]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["10.1002\/ajh.20836"],"URL":"https:\/\/doi.org\/10.1002\/ajh.20836","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,28]]}}}