Linked Life Data

8469289

Source:http://linkedlifedata.com/resource/pubmed/id/8469289

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6422
pubmed:dateCreated
1993-5-11
pubmed:abstractText
The nuclear DNA-binding protein NF-E2 is thought to mediate the powerful erythroid enhancer activity of the alpha- and beta-globin locus control regions and participates in the control of genes encoding two enzymes of haem biosynthesis (porphobilinogen deaminase and ferrochelatase). The major component of NF-E2 is a 45K polypeptide (designated p45 NF-E2) that belongs to the basic region-leucine zipper family of transcription factors. This subunit of NF-E2 is specifically expressed in haematopoietic progenitor cells and differentiated cells of the erythroid, megakaryocyte and mast cell lineages. The gene encoding p45 NF-E2 (murine gene Nfe2) has been mapped to mouse chromosome 15 near the mutation microcytosis (mk). Homozygous mk mice have severe hypochromic microcytic anaemia as a result of decreased globin synthesis and defects in intestinal and erythroid iron absorption. Here we investigate whether the mk mutation lies within Nfe2 by characterizing the p45 NF-E2 gene and determining its DNA sequence in wild-type and mk alleles. The mk allele carries a missense mutation that causes substitution of valine by alanine at amino acid 173 of the p45 NF-E2 protein. Expression of p45 NF-E2 messenger RNA was detected in erythroid tissues of normal mice and in the duodenum of normal and severely anaemic beta-thalassaemic (Hbbd-th3/Hbbd-th3) mice. We propose that the mk mutation results in an impaired form of NF-E2 which fails to regulate both globin production and iron metabolism properly.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0028-0836
pubmed:author
pubmed:issnType
Print
pubmed:day
22
pubmed:volume
362
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
768-70
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:8469289-Amino Acid Sequence, pubmed-meshheading:8469289-Anemia, pubmed-meshheading:8469289-Animals, pubmed-meshheading:8469289-Base Sequence, pubmed-meshheading:8469289-Chromosome Mapping, pubmed-meshheading:8469289-DNA, pubmed-meshheading:8469289-DNA-Binding Proteins, pubmed-meshheading:8469289-Duodenum, pubmed-meshheading:8469289-Enhancer Elements, Genetic, pubmed-meshheading:8469289-Erythroid-Specific DNA-Binding Factors, pubmed-meshheading:8469289-Globins, pubmed-meshheading:8469289-Iron, pubmed-meshheading:8469289-Mice, pubmed-meshheading:8469289-Mice, Inbred C3H, pubmed-meshheading:8469289-Mice, Inbred C57BL, pubmed-meshheading:8469289-Mice, Inbred DBA, pubmed-meshheading:8469289-Molecular Sequence Data, pubmed-meshheading:8469289-Mutation, pubmed-meshheading:8469289-NF-E2 Transcription Factor, pubmed-meshheading:8469289-NF-E2 Transcription Factor, p45 Subunit, pubmed-meshheading:8469289-Organ Specificity, pubmed-meshheading:8469289-Transcription Factors, pubmed-meshheading:8469289-beta-Thalassemia
pubmed:year
1993
pubmed:articleTitle
Mouse microcytic anaemia caused by a defect in the gene encoding the globin enhancer-binding protein NF-E2.
pubmed:affiliation
Division of Hematology/Oncology, Children's Hospital, Boston, Massachusetts.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't