| Literature DB >> 12532265 |
Stéphane Flamant1, Pascale Pescher, Brigitte Lemercier, Mathieu Clément-Ziza, Franois Képès, Marc Fellous, Geneviève Milon, Gilles Marchal, Claude Besmond.
Abstract
The P-type ATPases comprise a well-studied family of proteins involved in the active transport of charged substrates across biological membranes. Starting from a mouse bone marrow-derived macrophage cDNA library and using a signal peptide trapping strategy, we identified a new P-type ATPase family member. We characterized the genomic structure of this gene, named Atp10d, as well as its human counterpart. The presence of P-type ATPase consensus motifs and phylogenetic analysis showed that this gene is a member of the type IV, putative amphipath transporters subfamily. We showed that this gene is expressed in kidney and placenta. We also found that the C57BL/6 strain carries a constitutive stop codon in the sequence of Atp10d exon 12, whereas 14 other inbred mouse strains show an uninterrupted reading frame at this location. This mutation in C57BL/6 should lead to a non-functional protein, suggesting that this gene may not be essential. We discuss the involvement of the Atp10d gene in the fat-prone phenotype of the C57BL/6 strain and its physical mapping within a QTL associated with HDL-cholesterol levels.Entities:
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Year: 2003 PMID: 12532265 DOI: 10.1007/s00335-002-3032-3
Source DB: PubMed Journal: Mamm Genome ISSN: 0938-8990 Impact factor: 2.957