An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes.
An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes.
复制标题
一种与体脂肪和 2 型糖尿病表型相关的氨基磷脂转位酶。
DOI：
10.1038/oby.2002.94
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
Johnson,Dabney
中科院分区：
文献类型：
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作者：
Dhar,Madhu;Hauser,Loren;Johnson,Dabney
目的：我们发现小鼠7号染色体近端的一个区域，靠近红眼（p）稀释位点，含有一个ATP酶（pfatp），一种假定的氨基磷脂移位酶。研究表明，该基因是调节体内脂肪或参与小鼠和人类脂质代谢的主要候选基因。为了进一步分析，我们的目标是生成小鼠和人类基因的完整基因组结构。研究方法和程序：通过比较小鼠BAC的基因组序列和全长cDNA序列，推断小鼠脂肪的基因组结构。从国家生物技术信息中心数据库中鉴定了人类直系同源物。结果：鼠epfatp及其同源基因PFATP均属于P-型ATP酶第三亚家族的V类。两种生物的基因结构惊人地相似，所有外显子-内含子连接都是保守的。PFATP的启动子区含有一个强的CpG岛。这两个cDNA的5′端非翻译区具有多个转录因子的潜在结合位点，包括Sp1，USF，AP 1和AP 2，参与脂肪形成和脂肪细胞代谢。讨论：我们报告了小鼠和人类中一种新型氨基磷脂移位酶的完整基因组结构的产生。由于这些ATP酶的确切生物学作用和随后与肥胖和糖尿病的相关性尚不清楚，这些数据有助于描述这些基因在脂质/脂肪细胞代谢中的作用。
Objective:We have shown that a region on proximal mouse chromosome 7, near thepink‐eyed (p) dilutionlocus, contains an ATPase (pfatp), a putative aminophospholipid translocase. Studies have suggested that this gene is a prime candidate for modulating body fat or involved in lipid metabolism in mouse and humans. Toward further analyses, our objective was to generate the complete genomic structures of mouse and human genes.Research Methods and Procedures:The genomic structure of mousepfatpwas deduced by comparing the full‐length cDNA sequence with the genomic sequence derived from a mouse BAC. The human ortholog was identified from the National Center for Biotechnology Information database. Full‐length cDNA was generated, and the corresponding genomic structure was deduced from the Human Genome Database.Results:Murinepfatp, and its human ortholog,PFATP, belong to class V of the third subfamily of P‐type ATPases. The gene organization is strikingly similar in both organisms and all exon‐intron junctions are conserved. A putative promoter region ofPFATPcontains a strong CpG island. The 5′ untranslated regions of the two cDNAs have potential binding sites for multiple transcription factors, including Sp1, USF, AP1, and AP2, involved in adipogenesis and adipocyte metabolism.Discussion:We report the generation of the complete genomic structure of a novel aminophospholipid translocase in mice and humans. Because the exact biological role and the subsequent relevance of these ATPases to obesity and diabetes are unknown, these data help to delineate the role of these genes in lipid/adipocyte metabolism.