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首页> 外文期刊>Experimental Animals >Fine Localization of Nefl and Nef3 and its Exclusion as Candidate Gene for Lens Rupture 2(lr2)
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Fine Localization of Nefl and Nef3 and its Exclusion as Candidate Gene for Lens Rupture 2(lr2)

机译：Nefl和Nef3的精细定位及其作为晶状体破裂2（lr2）候选基因的排除

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摘要

Cataract causing lr2 gene is found in the CXSD mouse, which is a recombinant inbred strain of BALB/c and STS mice. For the process of positional cloning of lr2, several candidate genes were selected in the middle region of chromosome 14, but most of them were excluded by combination of recombination and homozygosity mapping. Components of neurofilament proteins, neurofilament light polypeptide (Nefl) and neurofilament3 medium (Nef3), were linked to D14Mit87 which was not separated from the lr2 locus in the homozygosity mapping. When the expression levels of Nefl and Nef3 in eyes were compared in CXSD and BALB/c mice, there were no differences in expression levels. The cDNA sequences of the two genes from CXSD, BALB/c and STS mice were subsequently compared. Several nucleotide differences in cDNA sequences were detected between the mice strains but the majority of the changes were silent mutations that did not alter the amino acids. The sole amino acid difference, E567K in the glutamate rich region of Nfm, between BALB/c and CXSD was found to be a simple genetic polymorphism because the same substitution existed in STS, a non-cataract mouse strain. Therefore we excluded Nefl and Nef3 from the candidate genes for lr2 based on expression and mutation analyses.
机译：在CXSD小鼠中发现了引起白内障的lr2基因，该小鼠是BALB / c和STS小鼠的重组近交系。对于lr2的位置克隆过程，在第14号染色体的中间区域选择了几个候选基因，但通过重组和纯合作图的结合排除了大多数候选基因。将神经丝蛋白，神经丝轻多肽（Nefl）和神经丝3培养基（Nef3）的组件连接到D14Mit87，该D14Mit87在纯合作图中未与lr2基因座分离。当在CXSD和BALB / c小鼠中比较眼睛中Nef1和Nef3的表达水平时，表达水平没有差异。随后比较了来自CXSD，BALB / c和STS小鼠的两个基因的cDNA序列。在小鼠品系之间检测到了cDNA序列中的几个核苷酸差异，但大多数变化是不改变氨基酸的沉默突变。发现BALB / c和CXSD之间唯一的氨基酸差异（Nfm富含谷氨酸的区域）中的E567K是简单的遗传多态性，因为在非白内障小鼠品系STS中存在相同的取代。因此，基于表达和突变分析，我们从lr2的候选基因中排除了Nefl和Nef3。

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