A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration
A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration
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DOI：
10.1006/geno.1999.5842
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发表时间：
1999-07-15
期刊：
影响因子：
4.4
通讯作者：
Aguirre, GD
中科院分区：
文献类型：
--
作者：
Acland, GM;Ray, K;Aguirre, GD
早期视网膜变性（erd）是一种早期发作的进行性视网膜萎缩，是一种表型上类似于人类视网膜色素变性（RP）的遗传性犬视网膜疾病。在先前鉴定erd基因座的努力中，排除了与人类RP因果相关的基因的犬同源物，例如视蛋白（RHO）、环GMP磷酸二酯酶（PDEGB）的β亚基基因和RDS/外周蛋白。对分离erd疾病的犬家族进行全基因组筛选。对超过150个犬特异性标记的分析已经将erd定位于单个连锁群，该连锁群包括两个先前鉴定的犬连锁群20和26，对应于犬辐射杂种群RH.34-a和RH.40-a，多点分析将erd置于标记FH 2289（距离23.6 cM）和FH 2407（5.9 cM）之间的区间内，lod评分为12.23。虽然erd连锁群还没有被分配到一个确定的犬染色体，这个连锁群与人类12 p13-q13的保守同线性提示了几个erd的候选人，并确定了一个新的视网膜变性位点。犬遗传学的快速发展将加快对遗传性状和疾病的基因和分子机制的鉴定，这些遗传性状和疾病使犬成为研究哺乳动物性状的独特资产。(C)北京：科学出版社.
Early retinal degeneration (erd) is an early onset progressive retinal atrophy, a hereditary canine retinal disease phenotypically similar to human retinitis pigmentosa (RP), In previous efforts to identify the erd locus, canine homologs of genes causally associated with RP in humans, such as opsin (RHO), the beta-subunit gene for cyclic GMP phosphodiesterase (PDEGB), and RDS/peripherin, were excluded. A genome-wide screen was undertaken on canine families segregating the erd disease. Analysis of over 150 canine-specific markers has localized erd to a single linkage group comprising two previously identified canine linkage groups, 20 and 26, corresponding to canine radiation hybrid groups RH.34-a and RH.40-a, Multipoint analysis places erd in the interval between marker FH2289 (distance 23.6 cM) and FH2407 (5.9 cM) with a lod score of 12.23. Although the erd linkage group has not been assigned to an identified canine chromosome, conserved synteny of this linkage group with human 12p13-q13 suggests several candidates for erd and identifies a novel retinal degeneration locus. The rapid progress now occurring in canine genetics will expedite identification of the genes and molecular mechanisms underlying the inherited traits and diseases that make the dog a unique asset for study of mammalian traits. (C) 1999 Academic Press.