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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
19
pubmed:dateCreated
2010-5-3
pubmed:abstractText
Expression of the five beta-like globin genes (epsilon, Ggamma, Agamma, delta, beta) in the human beta-globin locus depends on enhancement by the locus control region, which consists of five DNase I hypersensitive sites (5'HS1 through 5'HS5). We report here a novel enhancer activity in 5'HS1 that appears to be potent in transfected K562 cells. Deletion analyses identified a core activating element that bound to GATA-1, and a two-nucleotide mutation that disrupted GATA-1 binding in vitro abrogated 5'HS1 enhancer activity in transfection experiments. To determine the in vivo role of this GATA site, we generated multiple lines of human beta-globin YAC transgenic mice bearing the same two-nucleotide mutation. In the mutant mice, epsilon-, but not gamma-globin, gene expression in primitive erythroid cells was severely attenuated, while adult beta-globin gene expression in definitive erythroid cells was unaffected. Interestingly, DNaseI hypersensitivity near the 5'HS1 mutant sequence was eliminated in definitive erythroid cells, whereas it was only mildly affected in primitive erythroid cells. We therefore conclude that, although the GATA site in 5'HS1 is critical for efficient epsilon-globin gene expression, hypersensitive site formation per se is independent of 5'HS1 function, if any, in definitive erythroid cells.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-10082573, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-10087991, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-10192336, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-10454609, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-10828050, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-11069894, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-11567985, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-1383089, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-14517543, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-14645507, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-16055715, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-1709381, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-17433733, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-17548470, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-19074263, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-1916829, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-1987478, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-2040696, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-2291544, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-2295312, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-2362805, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-2704733, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-2798417, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-3456593, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-6232614, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-7739528, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8078582, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8236459, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8248258, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8353273, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8356061, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8422981, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8543153, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8628660, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8634425, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-8858153, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-9452491, http://linkedlifedata.com/resource/pubmed/commentcorrection/20231293-9461381
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1083-351X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
7
pubmed:volume
285
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
14495-503
pubmed:dateRevised
2011-7-28
pubmed:meshHeading
pubmed-meshheading:20231293-Humans, pubmed-meshheading:20231293-Animals, pubmed-meshheading:20231293-Mice, pubmed-meshheading:20231293-Mutation, pubmed-meshheading:20231293-Deoxyribonuclease I, pubmed-meshheading:20231293-Base Sequence, pubmed-meshheading:20231293-RNA, Messenger, pubmed-meshheading:20231293-Molecular Sequence Data, pubmed-meshheading:20231293-Transcription, Genetic, pubmed-meshheading:20231293-Promoter Regions, Genetic, pubmed-meshheading:20231293-Regulatory Sequences, Nucleic Acid, pubmed-meshheading:20231293-Sequence Deletion, pubmed-meshheading:20231293-Sequence Homology, Nucleic Acid, pubmed-meshheading:20231293-Blotting, Western, pubmed-meshheading:20231293-Enhancer Elements, Genetic, pubmed-meshheading:20231293-Mice, Transgenic, pubmed-meshheading:20231293-beta-Globins, pubmed-meshheading:20231293-GATA1 Transcription Factor, pubmed-meshheading:20231293-Chromosomes, Artificial, Yeast
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