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首页> 外文期刊>Mammalian genome: official journal of the International Mammalian Genome Society >Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on Chromosome region 2q35
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Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on Chromosome region 2q35

机译：人类NRAMP1基因区域在染色体2q35上的完整核苷酸序列和基因组结构

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摘要

Several lines of independent evidence suggest that human Natural Resistance Associated Macrophage Protein 1 gene (NRAMP 1) is an important regulator of susceptibility to infectious diseases caused by certain intracellular pathogens. Here, we report the nucleotide sequence of 32198 bp of genomic DNA overlapping NRAMP1 on chromosomal region 2q35. The NRAMP1 gene spans 13604 bp. The gene and its 5' genomic region are highly enriched for DNA repeat sequences. A second gene was identified in the immediate vicinity of NRAMP1 and was tentatively named Nuclear LIM Interactor-Interacting Factor (NLI-IF) by analogy to its closest ortholog. The human NLI-IF gene begins 4721 bp downstream of the NRAMP1 stop codon and is composed of seven exons varying in size from 57 bp to 1644 bp. The gene gives rise to a 2655-bp mRNA transcript that contains a 783-bp open reading frame. The predicted molecular weight of the 261-amino acid NLI- IF protein is 29.2 kDa. Several putative gene regulatory elements were identified in the 5' upstream region of NLI-IF, including consensus binding sequences for Spl, AP-2, NF-kappa B, and PU 1. The NLI-IF amino acid sequence has homology to proteins that have a high degree of homology with the NLI-interacting factor from Gallus gallus and are found in divergent species ranging from yeast to plants. NLI-IF is part of a human gene family encoding four related proteins of unknown function. Northern blot analysis of 15 different human tissues revealed a 2.6-kb NLI-IF mRNA that was ubiquitously expressed, but at varying levels. A second transcript with estimated size of 7 kb was expressed only in the placenta. Our data provide new sequence information about the NRAMP1 gene region that will be useful in the search for genetic variants causally involved in altered susceptibility to infectious diseases.
机译：几行独立的证据表明，人类天然抗性相关的巨噬细胞蛋白1基因（NRAMP 1）是某些细胞内病原体引起的传染病易感性的重要调节剂。在这里，我们报告染色体区域2q35上与NRAMP1重叠的32198 bp基因组DNA核苷酸序列。 NRAMP1基因跨度为13604 bp。该基因及其5'基因组区域富含DNA重复序列。第二个基因在NRAMP1的附近被发现，并通过与它最接近的直系同源物的类比，暂时命名为“核LIM相互作用因子”（NLI-IF）。人类NLI-IF基因在NRAMP1终止密码子的下游开始4721 bp，由七个外显子组成，大小从57 bp到1644 bp不等。该基因产生2655 bp的mRNA转录本，其中包含783 bp的开放阅读框。 261个氨基酸的NLI-IF蛋白的预测分子量为29.2 kDa。在NLI-IF的5'上游区域鉴定了几种推定的基因调控元件，包括Spl，AP-2，NF-κB和PU 1的共有结合序列。NLI-IF氨基酸序列与蛋白质具有同源性，与鸡背盖虫的NLI相互作用因子具有高度同源性，并且存在于从酵母到植物的多种物种中。 NLI-IF是编码四个功能未知的相关蛋白质的人类基因家族的一部分。对15种不同人体组织的Northern印迹分析显示了一个2.6kb的NLI-IF mRNA，该蛋白普遍表达，但水平不同。仅在胎盘中表达了估计大小为7 kb的第二个转录物。我们的数据提供了有关NRAMP1基因区域的新序列信息，这将有助于寻找与传染病易感性发生因果相关的遗传变异。

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