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

The contiguous gene deletion syndrome AMME is characterized by Alport syndr ome, midface hypoplasia, mental retardation and elliptocytosis and is cause d 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 hav e mapped both novel murine genes to mouse chromosome X band F1-F3. The muri ne and human orthologs show 96.5% (FACL4) and 95.2%(AMMECR1) identity at th e amino acid level, with conservation of the respective putative subcellula r localization signals. Our results show that Facl4 and Ammecr1 are the tru e murine orthologs of the human genes. Furthermore, the mapping of Facl4 an d Ammecr1 to MmuXF1-F3 suggests that this subinterval is orthologous, at le ast for a portion of Xq22.3. Copyright (C) 2000 S. Karger AG. Basel.