09/15: Comparative genomics of a conserved chromosomal region associated with a complex human phenotype.
09/15: Comparative genomics of a conserved chromosomal region associated with a complex human phenotype.
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09/15：与复杂人类表型相关的保守染色体区域的比较基因组学。
DOI：
10.1006/geno.2000.6485
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发表时间：
2001
期刊：
影响因子：
4.4
通讯作者：
Salbaum,JM
中科院分区：
文献类型：
--
作者：
Kappen,C;Salbaum,JM
编码相关免疫球蛋白超家族分子的三个基因最近被定位到人类 15 号染色体的 q22.3-q23 区域和小鼠 9 号染色体的同线区域。这些基因可能源自基因重复，它们与结直肠癌 (DCC) 中的删除基因高度相似，后者在神经系统发育过程中充当轴突引导分子。为了查明染色体簇中是否存在此类其他基因，我们在小鼠 9 号染色体和人类 15 号染色体之间的同线性区域内制作了比较物理图。该区间与人类 Bardet-Biedl 综合征 (BBS4) 的第四个遗传位点的关键区域重叠。 Bardet-Biedl 综合征 (OMIM 600374) 的特点是多指/短指畸形、视网膜变性、性腺功能减退、智力低下、肥胖、糖尿病和肾脏异常。该位点的详细图谱将有助于识别这种疾病的候选基因。
Three genes that encode related immunoglobulin superfamily molecules have recently been mapped to human chromosome 15 in the region q22.3–q23 and to the syntenic region on mouse chromosome 9. These genes presumably derived from gene duplications, and they are highly similar to Deleted in Colorectal Cancer (DCC), which functions as an axon guidance molecule during development of the nervous system. To find out whether additional genes of this class were present in a chromosomal cluster, we produced a comparative physical map within the region of synteny between mouse chromosome 9 and human chromosome 15. This interval overlaps the critical region for the fourth genetic locus for Bardet–Biedl syndrome (BBS4) in humans. Bardet–Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, mental retardation, obesity, diabetes, and kidney abnormalities. A detailed map of this locus will help to identify candidate genes for this disorder.