Literature DB >> 11414761

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.

N Bogdanova1, A Markoff, V Gerke, M McCluskey, J Horst, B Dworniczak.   

Abstract

PKD1 is the first gene identified to be causative for the condition of autosomal dominant polycystic kidney disease. There are several genes homologous to PKD1 that are located proximal to the master gene on the same chromosome. Two of these genes have been recently covered in a large sequencing work on chromosome 16, and their structure has been broadly analyzed. However, the major question whether homologous genes (HG) code for functionally active polypeptides has not been resolved so far. The current study identifies and partially characterizes four more homologues of PKD1, different from the previously published sequence, two of which were found by screening of a BAC library and the other two contained in available databases. Analysis of HG transcripts shows that they are not translated in the model cell line T98G. Taken together, these findings suggest that homologues to PKD1 form a family of pseudogenes. Copyright 2001 Academic Press.

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Year:  2001        PMID: 11414761     DOI: 10.1006/geno.2001.6568

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  26 in total

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2.  Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

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4.  Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

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5.  Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.

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7.  Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

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8.  PKD1 intron 21: triplex DNA formation and effect on replication.

Authors:  Hiren P Patel; Lu Lu; Richard T Blaszak; John J Bissler
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9.  Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Authors:  Amali C Mallawaarachchi; Timothy J Furlong; John Shine; Peter C Harris; Mark J Cowley
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Review 10.  Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients.

Authors:  Yun Kyu Oh; Hayne Cho Park; Hyunjin Ryu; Yong-Chul Kim; Kook-Hwan Oh
Journal:  Korean J Intern Med       Date:  2021-07-01       Impact factor: 2.884

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