Molecular characterization of four induced alleles at the Ednrb locus
AUTOR(ES)
Shin, Myung K.
FONTE
The National Academy of Sciences of the USA
RESUMO
The piebald locus on mouse chromosome 14 encodes the endothelin-B receptor (EDNRB), a G protein-coupled, seven-transmembrane domain protein, which is required for neural crest-derived melanocyte and enteric neuron development. A spontaneous null allele of Ednrb results in homozygous mice that are predominantly white and die as juveniles from megacolon. To identify the important domains for EDNRB function, four recessive juvenile lethal alleles created by either radiation or chemical mutagens (Ednrb27Pub, Ednrb17FrS, Ednrb1Chlc, and Ednrb3Chlo) were examined at the molecular level. Ednrb27Pub mice harbor a mutation at a critical proline residue in the fifth transmembrane domain of the EDNRB protein. A gross genomic alteration within the Ednrb gene in Ednrb3Chlo results in the production of aberrantly sized transcripts and no authentic Ednrb mRNA. Ednrb17FrS mice exhibited a decreased level of Ednrb mRNA, supporting previous observations that the degree of spotting in piebald mice is dependent on the amount of EDNRB expressed. Finally, no molecular defect was detected in Ednrb1Chlc mice, which produce normal levels of Ednrb mRNA in adult brain, suggesting that the mutation affects important regulatory elements that mediate the expression of the gene during development.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=24270Documentos Relacionados
- Ds-Induced Alleles at the OPAQUE-2 Locus of Maize
- Molecular characterization of the Drosophila vermilion locus and its suppressible alleles.
- Molecular Genetic Characterization of Six Recessive Viable Alleles of the Mouse Agouti Locus
- Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.
- Cytogenetic Analysis of Chromosome 3 in DROSOPHILA MELANOGASTER: Isolation and Characterization of Four New Alleles of the Proboscipedia (pb) Locus