Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6556
pubmed:dateCreated
1995-12-28
pubmed:abstractText
The mixed-lineage leukaemia gene (MLL/HRX/ALL-1) is disrupted by chromosomal translocation in human acute leukaemias that often display mixed lymphoid-myeloid phenotypes and present in infancy. MLL possesses a highly conserved SET domain also found in Drosophila trithorax (trx) and Polycomb group (Pc-G) genes, which are known to regulate homeotic genes (HOM-C) in a positive or negative fashion, respectively. Mll was targeted in mice by homologous recombination in embryonic stem (ES) cells to assess its role in pattern development. Mll heterozygous (+/-) mice had retarded growth, displayed haematopoietic abnormalities, and demonstrated bidirectional homeotic transformations of the axial skeleton as well as sternal malformations. Mll deficiency (-/-) was embryonic lethal. Anterior boundaries of Hoxa-7 and Hoxc-9 expression were shifted posteriorly in Mll +/- embryos, but their expression was abolished in Mll -/- embryos. Thus Mll is required for proper segment identity in mammals, displays haplo-insufficiency, and positively regulates Hox gene expression.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0028-0836
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
378
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
505-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:7477409-Animals, pubmed-meshheading:7477409-Cell Line, pubmed-meshheading:7477409-Chimera, pubmed-meshheading:7477409-DNA-Binding Proteins, pubmed-meshheading:7477409-Embryonic and Fetal Development, pubmed-meshheading:7477409-Female, pubmed-meshheading:7477409-Fetus, pubmed-meshheading:7477409-Gene Expression Regulation, Developmental, pubmed-meshheading:7477409-Gene Targeting, pubmed-meshheading:7477409-Genes, Homeobox, pubmed-meshheading:7477409-Heterozygote, pubmed-meshheading:7477409-Homozygote, pubmed-meshheading:7477409-Humans, pubmed-meshheading:7477409-Male, pubmed-meshheading:7477409-Mice, pubmed-meshheading:7477409-Mutagenesis, pubmed-meshheading:7477409-Mutation, pubmed-meshheading:7477409-Myeloid-Lymphoid Leukemia Protein, pubmed-meshheading:7477409-Proto-Oncogenes, pubmed-meshheading:7477409-Transcription Factors
pubmed:year
1995
pubmed:articleTitle
Altered Hox expression and segmental identity in Mll-mutant mice.
pubmed:affiliation
Howard Hughes Medical Institute, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't