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

F Vitelli, I Meloni, S Fineschi, F Favara, C Tiziana Storlazzi, M Rocchi, A Renieri
{"title":"Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.","authors":"F Vitelli,&nbsp;I Meloni,&nbsp;S Fineschi,&nbsp;F Favara,&nbsp;C Tiziana Storlazzi,&nbsp;M Rocchi,&nbsp;A Renieri","doi":"10.1159/000015533","DOIUrl":null,"url":null,"abstract":"<p><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 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.</p>","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015533","citationCount":"12","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cytogenetics and cell genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000015533","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 12

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.

AMME综合征中缺失的AMMECR1和FACL4基因小鼠同源基因的鉴定和表征:Xq22.3和MmuXF1-F3的同源基因。
连续基因缺失综合征AMME以Alport综合征、中脸发育不全、智力低下和椭圆细胞增多症为特征,由Xq22.3基因缺失引起,包括COL4A5、FACL4和AMMECR1等多个基因。我们现在已经克隆了小鼠Facl4和Ammecr1基因,并将这两个新的小鼠基因定位到小鼠染色体X带F1-F3。小鼠和人类同源基因在氨基酸水平上的同源性分别为96.5% (FACL4)和95.2% (AMMECR1),并保留了各自的亚细胞定位信号。我们的结果表明Facl4和Ammecr1是人类基因的真正的鼠同源物。此外,Facl4和Ammecr1到MmuXF1-F3的映射表明,这个子区间是同源的,至少对于Xq22的一部分来说是同源的。3.
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信