title: Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.
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.
authors.affiliation: Genetica Medica, Dipartimento Biologia Molecolare, Università di Siena, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Vitelli
authors.forename: I
authors.initials: I
authors.lastname: Meloni
authors.forename: S
authors.initials: S
authors.lastname: Fineschi
authors.forename: F
authors.initials: F
authors.lastname: Favara
authors.forename: C
authors.initials: C
authors.lastname: Tiziana Storlazzi
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: A
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D003066:Coenzyme A Ligases / Q000737:chemistry / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D020161:Physical Chromosome Mapping; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
chemical_list: C118927:AMMECR1 protein, human; C485590:Ammecr1 protein, mouse; D011506:Proteins; D012333:RNA, Messenger; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D003066:Coenzyme A Ligases; C090799:FAA2 protein, S cerevisiae; D000098859:Long-Chain-Fatty-Acid-CoA Ligase