AMME综合征中缺失的AMMECR1和FACL4基因的小鼠直系同源基因的鉴定与特征分析：Xq22.3与MmuXF1 - F3的直系同源关系

Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.

作者信息

Vitelli F, Meloni I, Fineschi S, Favara F, Tiziana Storlazzi C, Rocchi M, Renieri A

机构信息

Genetica Medica, Dipartimento Biologia Molecolare, Università di Siena, Italy.

出版信息

Cytogenet Cell Genet. 2000;88(3-4):259-63. doi: 10.1159/000015533.

DOI:10.1159/000015533

PMID:10828604

Abstract

The contiguous gene deletion syndrome AMME is characterized by Alport syndrome, midface hypoplasia, mental retardation and elliptocytosis and is caused by a deletion in Xq22.3, comprising several genes including COL4A5, FACL4 and AMMECR1. We have now cloned the murine Facl4 and Ammecr1 genes and have mapped both novel murine genes to mouse chromosome X band F1-F3. The murine and human orthologs show 96.5% (FACL4) and 95.2% (AMMECR1) identity at the amino acid level, with conservation of the respective putative subcellular localization signals. Our results show that Facl4 and Ammecr1 are the true murine orthologs of the human genes. Furthermore, the mapping of Facl4 and Ammecr1 to MmuXF1-F3 suggests that this subinterval is orthologous, at least for a portion of Xq22. 3.

摘要

连续性基因缺失综合征AMME的特征为阿尔波特综合征、面中部发育不全、智力迟钝和椭圆形红细胞增多症，由Xq22.3区域的缺失引起，该区域包含几个基因，包括COL4A5、FACL4和AMMECR1。我们现已克隆出小鼠的Facl4和Ammecr1基因，并将这两个新的小鼠基因定位到小鼠X染色体的F1-F3带。小鼠和人类的直系同源基因在氨基酸水平上分别显示出96.5%（FACL4）和95.2%（AMMECR1）的同一性，各自假定的亚细胞定位信号得以保留。我们的结果表明，Facl4和Ammecr1是人类基因真正的小鼠直系同源基因。此外，Facl4和Ammecr1定位到MmuXF1-F3表明，至少对于Xq22.3的一部分而言，这个亚区间是直系同源的。