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首页> 外文期刊>Genomics >A Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease.
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A Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease.

机译：编码TIG多域蛋白的新型基因是常染色体隐性隐性多囊肾病的候选位置。

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Autosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in infants and children. By genetic linkage analyses, the gene responsible for this disease, termed polycystic kidney and hepatic disease 1 (PKHD1), was mapped on human chromosome 6p21.1-p12, and has been further localized to a 1-cM genetic interval flanked by the D6S1714/D6S243 (telomeric) and D6S1024 (centromeric) markers. We recently identified a novel gene in this genetic interval from kidney cDNA, using cloning strategies. The gene PKHD1 (PKHD1-tentative) encodes a novel 3396-amino-acid protein with no apparent homology with any known proteins. We named its gene product "tigmin" because it contains multiple TIG domains, which usually are seen in proteins containing immunoglobulin-like folds. PKHD1 encodes an 11.6-kb transcript and is composed of 61 exons spanning an approximately 365-kb genomic region on chromosome 6p12-p11.2 adjacent to the marker D6S1714. Northern blot analyses demonstrated that the gene has discrete bands with one peak signal at approximately 11 kb, indicating that PKHD1 is likely to have multiple alternative transcripts. PKHD1 is highly expressed in adult and infant kidneys and weakly expressed in liver in northern blot analysis. This expression pattern parallels the tissue involvement observed in ARPKD. In situ hybridization analysis further revealed that the expression of PKHD1 in the kidney is mainly localized to the epithelial cells of the collecting duct, the specific tubular segment involved in cyst formation in ARPKD. These features of PKHD1 make it a strong positional candidate gene for ARPKD. (c)2002 Elsevier Science (USA).
机译：常染色体隐性隐性多囊性肾病（ARPKD）是婴儿和儿童中常见的遗传性肾囊性疾病。通过遗传连锁分析，将导致该疾病的基因（称为多囊肾和肝病1（PKHD1））定位在人类染色体6p21.1-p12上，并已进一步定位于D6S1714侧翼的1-cM遗传区间/ D6S243（端粒）和D6S1024（着丝粒）标记。我们最近使用克隆策略从肾脏cDNA的这一遗传间隔中鉴定了一个新基因。基因PKHD1（暂定PKHD1）编码一种新的3396个氨基酸的蛋白质，与任何已知的蛋白质都没有明显的同源性。我们将其基因产物命名为“ tigmin”，因为它包含多个TIG域，通常在包含免疫球蛋白样折叠的蛋白质中可见。 PKHD1编码一个11.6kb的转录本，由61个外显子组成，跨越染色体6p12-p11.2上与标记D6S1714相邻的大约365kb基因组区域。 Northern印迹分析表明该基因具有不连续的条带，在大约11 kb处有一个峰信号，表明PKHD1可能具有多种其他转录本。在Northern印迹分析中，PKHD1在成人和婴儿肾脏中高表达，而在肝脏中低表达。这种表达模式与ARPKD中观察到的组织受累相似。原位杂交分析进一步表明，肾脏中PKHD1的表达主要定位于收集管的上皮细胞，该细胞是ARPKD囊肿形成的特定管状节段。 PKHD1的这些特征使其成为ARPKD的强位置候选基因。 （c）2002 Elsevier Science（美国）。

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