Flamant Stéphane, Pescher Pascale, Lemercier Brigitte, Clément-Ziza Mathieu, Képès Franois, Fellous Marc, Milon Geneviève, Marchal Gilles, Besmond Claude
Hôpital Necker-Enfants Malades, INSERM U393, Tour Lavoisier, 2 ème étage, 149 rue de Sèvres, 75015 Paris, France.
Mamm Genome. 2003 Jan;14(1):21-30. doi: 10.1007/s00335-002-3032-3.
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.
P型ATP酶构成了一个经过充分研究的蛋白质家族，参与带电底物跨生物膜的主动运输。我们从一个小鼠骨髓来源的巨噬细胞cDNA文库出发，采用信号肽捕获策略，鉴定出一个新的P型ATP酶家族成员。我们对这个名为Atp10d的基因及其人类对应基因的基因组结构进行了表征。P型ATP酶共有基序的存在和系统发育分析表明，该基因是IV型假定两亲转运体亚家族的成员。我们发现该基因在肾脏和胎盘中表达。我们还发现，C57BL/6品系在Atp10d外显子12序列中携带一个组成型终止密码子，而其他14个近交小鼠品系在该位置显示出不间断的阅读框。C57BL/6品系中的这种突变应该会导致产生无功能的蛋白质，这表明该基因可能不是必需的。我们讨论了Atp10d基因与C57BL/6品系的易胖表型的关系及其在与高密度脂蛋白胆固醇水平相关的数量性状位点内的物理定位。
