| Title |
The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism
|
|---|---|
| Published in |
Mammalian Genome, February 2014
|
| DOI | 10.1007/s003350010009 |
| Pubmed ID | |
| Authors |
Lei Guo, Minghua Chen, Nuria Basora, Jing Zhou |
| Abstract |
Polycystin-L is a member of the expanding family of polycystins. Mutations in polycystin-1 or -2 cause human autosomal dominant polycystic kidney disease (ADPKD). The mouse ortholog of PKDL, Pkdl, is deleted in a mouse line with renal and retinal defects. We recently have shown that polycystin-L has calcium channel properties. In the current study, we determined the exon/intron organization of the PKDL gene and its alternative splicing. We show that PKDL has 16 exons. All splice acceptor/donor sites for these exons conform to the GT-AG rule. The positions of introns and the sizes of exons in the PKDL gene are very similar to those of PKD2, except for the last two 3' end exons. RT-PCR demonstrates the existence of at least three polycystin-L splice variants: PKDL(Delta5), PKDL(Delta456), and PKDL(Delta15) that are expressed in a tissue-specific manner. In addition, we have localized polymorphic marker D10S603 to intron 4 and exon 5 of PKDL. Elucidation of the gene structure, exact location, and alternative splicing patterns of PKDL will facilitate its evaluation as a candidate gene in cystic or other genetic disorders. |
Mendeley readers
The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 19 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 32% |
| Professor | 3 | 16% |
| Student > Doctoral Student | 1 | 5% |
| Student > Bachelor | 1 | 5% |
| Student > Ph. D. Student | 1 | 5% |
| Other | 3 | 16% |
| Unknown | 4 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 37% |
| Agricultural and Biological Sciences | 4 | 21% |
| Medicine and Dentistry | 4 | 21% |
| Unknown | 4 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 July 2018.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from Mammalian Genome
#318
of 1,126 outputs
Outputs of similar age
#73,698
of 221,228 outputs
Outputs of similar age from Mammalian Genome
#27
of 92 outputs
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