cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-->q13.1 which encodes a highly conserved, potential membrane-associated protein.

H Stöhr, A Marquardt, K White, B H Weber
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引用次数: 17

Abstract

We have cloned and characterized a novel gene (C11orf9) mapping to chromosome 11q12-->q13.1. The transcript was initially identified as a partial cDNA sequence in the course of constructing a transcript map of the region between markers D11S1765 and uteroglobin known to encompass the gene causing Best disease. Using a combination of EST mapping, computational exon prediction, RT-PCR, and 5'-RACE its 5. 7-kb full-length cDNA sequence was subsequently obtained. The C11orf9 gene consists of 26 exons spanning 33.1 kb of genomic DNA and is located about 4.3 kb centromeric to FEN1. Biocomputational analysis predicts that its conceptual translation product of 1,111 amino acids contains two transmembrane helices as well as two proline-rich regions. Alignment reveals significant homology to hypothetical peptides from several other species including C. elegans and D. melanogaster, indicating a high degree of conservation throughout evolution. Northern Blot and RT-PCR analyses demonstrate widespread expression of a single transcript but varying degrees of abundance among the individual tissues tested. Mutation analysis of the entire coding sequence excluded C11orf9 as the Best disease gene.

定位于染色体11q12- >q13.1的新基因C11orf9的cDNA克隆和基因组结构,该基因编码高度保守的潜在膜相关蛋白。
我们克隆并鉴定了一个定位于染色体11q12- >q13.1的新基因(C11orf9)。在构建标记D11S1765和子宫红蛋白之间区域的转录图谱过程中,转录本最初被鉴定为部分cDNA序列,该区域已知包含导致Best疾病的基因。结合EST定位、计算外显子预测、RT-PCR和5'-RACE its 5。获得全长7kb的cDNA序列。C11orf9基因由26个外显子组成,横跨33.1 kb的基因组DNA,位于FEN1约4.3 kb的着丝粒上。生物计算分析预测其1111个氨基酸的概念翻译产物包含两个跨膜螺旋和两个富含脯氨酸的区域。比对结果显示,该序列与其他几个物种(包括秀丽隐杆线虫和黑腹线虫)的假设肽具有显著的同源性,表明其在整个进化过程中具有高度的保守性。Northern Blot和RT-PCR分析表明,单个转录本广泛表达,但在测试的单个组织中丰度不同。整个编码序列的突变分析排除C11orf9为最佳致病基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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