{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:51:03Z","timestamp":1784544663539,"version":"3.55.0"},"reference-count":4,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2000]]},"abstract":"<jats:p>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 &lt;i&gt;Facl4&lt;\/i&gt; and &lt;i&gt;Ammecr1&lt;\/i&gt; genes and have mapped both novel murine genes to mouse chromosome X band F1\u2013F3. 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 &lt;i&gt;Facl4&lt;\/i&gt; and &lt;i&gt;Ammecr1&lt;\/i&gt; are the true murine orthologs of the human genes. Furthermore, the mapping of &lt;i&gt;Facl4&lt;\/i&gt; and &lt;i&gt;Ammecr1&lt;\/i&gt; to MmuXF1\u2013F3 suggests that this subinterval is orthologous, at least for a portion of Xq22.3.\u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000015533","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T15:43:24Z","timestamp":1050421404000},"page":"259-263","source":"Crossref","is-referenced-by-count":9,"title":["Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1\u2013F3"],"prefix":"10.1159","volume":"88","author":[{"given":"F.","family":"Vitelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Meloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Fineschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Favara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Tiziana Storlazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Rocchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2000,5,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1990.9999"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.28.16748"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.2880"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.127.3.879"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/15533","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/15533","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:35:37Z","timestamp":1745469337000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000015533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000]]},"references-count":4,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2000,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000015533","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000]]}}}