@article{stadhouders_hbs1l-myb_2014,
	title = {{HBS1L}-{MYB} intergenic variants modulate fetal hemoglobin via long-range {MYB} enhancers.},
	volume = {124},
	doi = {10.1172/jci71520},
	abstract = {Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels and alterations of other clinically important human erythroid traits. It is unclear how these noncoding sequence variants affect multiple erythrocyte characteristics. Here, we determined that several HBS1L-MYB intergenic variants affect regulatory elements that are occupied by key erythroid transcription factors within this region. These elements interact with MYB, a critical regulator of erythroid development and HbF levels. We found that several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting long-range interactions with MYB and MYB expression levels. These data provide a functional explanation for the genetic association of HBS1L-MYB intergenic polymorphisms with human erythroid traits and HbF levels. Our results further designate MYB as a target for therapeutic induction of HbF to ameliorate sickle cell and β-thalassemia disease severity.},
	number = {4},
	journal = {Journal of Clinical Investigation},
	author = {Stadhouders, Ralph and Aktuna, Suleyman and Thongjuea, Supat and Aghajanirefah, Ali and Pourfarzad, Farzin and van IJcken, Wilfred F. J. and Lenhard, Boris and Rooks, Helen and Best, Steve and Menzel, Stephan and Grosveld, Frank and Grosveld, Frank and Thein, Swee Lay and Soler, Eric},
	month = apr,
	year = {2014},
	doi = {10.1172/jci71520},
	pmcid = {3973089},
	pmid = {24614105},
	note = {MAG ID: 2153926593},
	pages = {1699--1710},
}

{"_id":"x9KyN2yN4eSNzR8nb","bibbaseid":"stadhouders-aktuna-thongjuea-aghajanirefah-pourfarzad-vanijcken-lenhard-rooks-etal-hbs1lmybintergenicvariantsmodulatefetalhemoglobinvialongrangemybenhancers-2014","author_short":["Stadhouders, R.","Aktuna, S.","Thongjuea, S.","Aghajanirefah, A.","Pourfarzad, F.","van IJcken, W. F. J.","Lenhard, B.","Rooks, H.","Best, S.","Menzel, S.","Grosveld, F.","Grosveld, F.","Thein, S. L.","Soler, E."],"bibdata":{"bibtype":"article","type":"article","title":"HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.","volume":"124","doi":"10.1172/jci71520","abstract":"Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels and alterations of other clinically important human erythroid traits. It is unclear how these noncoding sequence variants affect multiple erythrocyte characteristics. Here, we determined that several HBS1L-MYB intergenic variants affect regulatory elements that are occupied by key erythroid transcription factors within this region. These elements interact with MYB, a critical regulator of erythroid development and HbF levels. We found that several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting long-range interactions with MYB and MYB expression levels. These data provide a functional explanation for the genetic association of HBS1L-MYB intergenic polymorphisms with human erythroid traits and HbF levels. Our results further designate MYB as a target for therapeutic induction of HbF to ameliorate sickle cell and β-thalassemia disease severity.","number":"4","journal":"Journal of Clinical Investigation","author":[{"propositions":[],"lastnames":["Stadhouders"],"firstnames":["Ralph"],"suffixes":[]},{"propositions":[],"lastnames":["Aktuna"],"firstnames":["Suleyman"],"suffixes":[]},{"propositions":[],"lastnames":["Thongjuea"],"firstnames":["Supat"],"suffixes":[]},{"propositions":[],"lastnames":["Aghajanirefah"],"firstnames":["Ali"],"suffixes":[]},{"propositions":[],"lastnames":["Pourfarzad"],"firstnames":["Farzin"],"suffixes":[]},{"propositions":["van"],"lastnames":["IJcken"],"firstnames":["Wilfred","F.","J."],"suffixes":[]},{"propositions":[],"lastnames":["Lenhard"],"firstnames":["Boris"],"suffixes":[]},{"propositions":[],"lastnames":["Rooks"],"firstnames":["Helen"],"suffixes":[]},{"propositions":[],"lastnames":["Best"],"firstnames":["Steve"],"suffixes":[]},{"propositions":[],"lastnames":["Menzel"],"firstnames":["Stephan"],"suffixes":[]},{"propositions":[],"lastnames":["Grosveld"],"firstnames":["Frank"],"suffixes":[]},{"propositions":[],"lastnames":["Grosveld"],"firstnames":["Frank"],"suffixes":[]},{"propositions":[],"lastnames":["Thein"],"firstnames":["Swee","Lay"],"suffixes":[]},{"propositions":[],"lastnames":["Soler"],"firstnames":["Eric"],"suffixes":[]}],"month":"April","year":"2014","pmcid":"3973089","pmid":"24614105","note":"MAG ID: 2153926593","pages":"1699–1710","bibtex":"@article{stadhouders_hbs1l-myb_2014,\n\ttitle = {{HBS1L}-{MYB} intergenic variants modulate fetal hemoglobin via long-range {MYB} enhancers.},\n\tvolume = {124},\n\tdoi = {10.1172/jci71520},\n\tabstract = {Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels and alterations of other clinically important human erythroid traits. It is unclear how these noncoding sequence variants affect multiple erythrocyte characteristics. Here, we determined that several HBS1L-MYB intergenic variants affect regulatory elements that are occupied by key erythroid transcription factors within this region. These elements interact with MYB, a critical regulator of erythroid development and HbF levels. We found that several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting long-range interactions with MYB and MYB expression levels. These data provide a functional explanation for the genetic association of HBS1L-MYB intergenic polymorphisms with human erythroid traits and HbF levels. Our results further designate MYB as a target for therapeutic induction of HbF to ameliorate sickle cell and β-thalassemia disease severity.},\n\tnumber = {4},\n\tjournal = {Journal of Clinical Investigation},\n\tauthor = {Stadhouders, Ralph and Aktuna, Suleyman and Thongjuea, Supat and Aghajanirefah, Ali and Pourfarzad, Farzin and van IJcken, Wilfred F. J. and Lenhard, Boris and Rooks, Helen and Best, Steve and Menzel, Stephan and Grosveld, Frank and Grosveld, Frank and Thein, Swee Lay and Soler, Eric},\n\tmonth = apr,\n\tyear = {2014},\n\tdoi = {10.1172/jci71520},\n\tpmcid = {3973089},\n\tpmid = {24614105},\n\tnote = {MAG ID: 2153926593},\n\tpages = {1699--1710},\n}\n\n","author_short":["Stadhouders, R.","Aktuna, S.","Thongjuea, S.","Aghajanirefah, A.","Pourfarzad, F.","van IJcken, W. F. J.","Lenhard, B.","Rooks, H.","Best, S.","Menzel, S.","Grosveld, F.","Grosveld, F.","Thein, S. L.","Soler, E."],"key":"stadhouders_hbs1l-myb_2014","id":"stadhouders_hbs1l-myb_2014","bibbaseid":"stadhouders-aktuna-thongjuea-aghajanirefah-pourfarzad-vanijcken-lenhard-rooks-etal-hbs1lmybintergenicvariantsmodulatefetalhemoglobinvialongrangemybenhancers-2014","role":"author","urls":{},"metadata":{"authorlinks":{}},"html":""},"bibtype":"article","biburl":"https://bibbase.org/zotero/kountour","dataSources":["MnayAXw3qciX87bz7"],"keywords":[],"search_terms":["hbs1l","myb","intergenic","variants","modulate","fetal","hemoglobin","via","long","range","myb","enhancers","stadhouders","aktuna","thongjuea","aghajanirefah","pourfarzad","van ijcken","lenhard","rooks","best","menzel","grosveld","grosveld","thein","soler"],"title":"HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.","year":2014}