Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis
Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis
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DOI：
10.1006/nbdi.2000.0328
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发表时间：
2000-12-01
影响因子：
6.1
通讯作者：
Abitbol, MM
中科院分区：
文献类型：
--
作者：
Nandrot, E;Dufour, EM;Abitbol, MM
RCS 大鼠呈现常染色体隐性视网膜色素上皮营养不良，其特征是光感受器外节吞噬作用缺陷。系统的遗传学研究使我们能够将包含 rdy 基因座的区间限制在标记 D3Mit13 和 D3Rat256 之间。我们基于遗传分析和辐射杂交作图，报告了大鼠 c-mer 基因在细胞遗传学带 3q35-36 中的染色体定位。通过系统的生物计算分析，我们确定了编码 AXL 亚家族蛋白酪氨酸激酶受体的两个强相关候选基因。比较它们在人类和小鼠组织中的表达模式表明，c-mer 基因是筛选突变的最佳基因。对 RCS rdy- 和 RCS rdy+ cDNA 进行测序。 RCS rdy-cDNAs在c-mer基因编码序列的5'部分携带显着缺失，导致编码20个氨基酸肽的缩短的异常转录物。 c-mer 基因包含神经细胞粘附的特征基序。 c-mer 受体的配体 Gas6 具有抗凋亡特性。 (C) 2000 年学术出版社。
The RCS rat presents an autosomal recessive retinal pigment epithelium dystrophy characterized by the outer segments of photoreceptors being phagocytosis-deficient. A systematic genetic study allowed us to restrict the interval containing the rdy locus to that between the markers D3Mit13 and D3Rat256. We report the chromosomal localization of the rat c-mer gene in the cytogenetic bands 3q35-36, based on genetic analysis and radiation hybrid mapping. Using a systematic biocomputing analysis, we identified two strong related candidate genes encoding protein tyrosine kinase receptors of the AXL subfamily. The comparison of their expression patterns in human and mice tissues suggested that the c-mer gene was the best gene to screen for mutations. RCS rdy- and RCS rdy+ cDNAs were sequenced. The RCS rdy- cDNAs carried a significant deletion in the 5' part of the coding sequence of the c-mer gene resulting in a shortened aberrant transcript encoding a 20 amino acid peptide. The c-mer gene contains characteristic motifs of neural cell adhesion. A ligand of the c-mer receptor, Gas6, exhibits antiapoptotic properties. (C) 2000 Academic Press.