Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes
Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes
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DOI：
10.1016/s0167-4781(01)00328-1
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发表时间：
2001-12-30
期刊：
影响因子：
--
通讯作者：
Weber, BHF
中科院分区：
文献类型：
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作者：
Mah, N;Stoehr, H;Weber, BHF
人类视网膜由大量具有高度专业化功能的细胞类型组成，这些功能取决于无数基因的作用，其中许多基因仅在视网膜中表达。我们分离出一个新的视网膜基因，命名为F379。该转录本最初被鉴定为主要来自视网膜cDNA文库的EST簇，其视网膜转录通过北方印迹和RT-PCR证实。视网膜cDNA文库的筛选产生了四个克隆，组装成一个1188 bp的共有序列。推定的开放阅读框架包括一个不寻常的配置的Alu和MIR重复，并编码一个推定的85 aa肽没有显着的同源性以外的任何已知的蛋白质序列的Alu和MIR元件。与基因组序列的比较确定F379由三个外显子组成，并映射到整个基因组的多个位置，这一发现通过PCR筛选体细胞杂交作图板得到证实。F379似乎包含在亚端粒DNA区域内，该区域以多态性分布复制到多条染色体。染色体间序列变异与表达的转录本序列的比较表明，该基因在人类视网膜中从至少四条不同的染色体转录。(C)2001爱思唯尔科技有限公司。保留所有权利。
The human retina is comprised of a large number of cell types with highly specialized functions that depend on the action of countless genes, many of which are exclusively expressed in the retina. We have isolated a novel retinal gene, termed F379. The transcript was initially identified as a cluster of ESTs derived predominantly from retinal cDNA libraries and its retinal transcription confirmed by Northern blot and RT-PCR. Screening of retinal cDNA libraries yielded four clones that were assembled into a 1188 bp consensus sequence. The putative open reading frame includes an unusual configuration of Alu and MIR repeats and encodes a putative 85 aa peptide with no significant homology to any known protein sequence outside of the Alu and MIR elements. Comparison with genomic sequence determined that F379 consists of three exons and maps to multiple locations throughout the genome, a finding confirmed by PCR screening of a somatic cell hybrid mapping panel. F379 appears to be contained within a region of subtelomeric DNA that is duplicated in a polymorphic distribution to multiple chromosomes. Comparison of interchromosomal sequence variation with the sequences of expressed transcripts suggests that the gene is transcribed in the human retina from at least four different chromosomes. (C) 2001 Elsevier Science B.V. All rights reserved.