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交配线虫与多囊肾:秀丽隐杆线虫作为肾脏疾病的模型

Mating worms and the cystic kidney: Caenorhabditis elegans as a model for renal disease.

作者信息

Lipton Jonathan

机构信息

Department of Pediatrics, Children's Hospital at Montefiore, 3415 Bainbridge Avenue, New York, NY 10467, USA.

出版信息

Pediatr Nephrol. 2005 Nov;20(11):1531-6. doi: 10.1007/s00467-005-1958-x. Epub 2005 Jun 10.

Abstract

Polycystic kidney disease (PKD) is caused by a group of variably inherited human disorders that are major causes of end-stage renal disease in both children and adults. The genetic culprits responsible for autosomal-dominant PKD (ADPKD), the polycystins, have been identified, yet still little is known about the molecular mechanisms that result in the disease phenotype. Polycystin homologs have been isolated in the model genetic organism Caenorhabditis elegans and, interestingly, play a specific role in C. elegans male mating behavior. Despite the recruitment of the polycystins for divergent functions in worms and humans it appears that the fundamental molecular and genetic interactions of these genes are evolutionarily conserved. In addition, studies in the worm have contributed to an understanding of the emerging role for cilia in the function of the polycystin pathway, expanding a promising frontier in PKD research. C. elegans has also been used to identify a gene family which may have significance for understanding the formation and maintenance of renal tubules.

摘要

多囊肾病(PKD)是由一组遗传方式各异的人类疾病引起的,这些疾病是儿童和成人终末期肾病的主要病因。导致常染色体显性多囊肾病(ADPKD)的致病基因——多囊蛋白已被确定,但对于导致该疾病表型的分子机制仍知之甚少。在模式遗传生物秀丽隐杆线虫中已分离出多囊蛋白同源物,有趣的是,它们在秀丽隐杆线虫的雄性交配行为中发挥特定作用。尽管多囊蛋白在蠕虫和人类中具有不同的功能,但这些基因的基本分子和遗传相互作用似乎在进化上是保守的。此外,对蠕虫的研究有助于理解纤毛在多囊蛋白途径功能中的新作用,拓展了多囊肾病研究中一个有前景的前沿领域。秀丽隐杆线虫还被用于鉴定一个基因家族,该家族可能对理解肾小管的形成和维持具有重要意义。

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