Identification of PKD2L, a human PKD2-related gene: Tissue-specific expression and mapping to chromosome 10q25

Guanqing Wu, Tomohito Hayashi, Jong Hoon Park, Mehul Dixit, David M. Reynolds, Li Li, Yoshiko Maeda, Yiqiang Cai, Miguel Coca-Prados, Stefan Somlo

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Abstract

Mutations in PKD2 cause autosomal dominant kidney disease (ADPKD). Polycystin-2, the PKD2 gene product, is an integral membrane glycoprotein of unknown function. We have identified PKD2L, another member of the PKD2 gene family. PKD2L is expressed in adult heart and skeletal muscle, brain, spleen, testis, and retina, and alternative transcripts of 2.4, 2.7, and 3.0 kb are seen. PKD2L shows 56% identity and 76% similarity with polycystin-2 over a 581-amino-acid span; however, the COOH-terminal 65 residues of PKD2L are unrelated to PKD2. PKD2L is localized to chromosome 10q25 and is excluded as a candidate gene for autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and the third form of ADPKD. Given the high degree of homology between PKD2L and PKD2, it is likely that the respective functions of these proteins are also closely related.

Original languageEnglish (US)
Pages (from-to)564-568
Number of pages5
JournalGenomics
Volume54
Issue number3
DOIs
StatePublished - Dec 15 1998

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Chromosome Mapping
Autosomal Dominant Polycystic Kidney
Autosomal Recessive Polycystic Kidney
Genes
Membrane Glycoproteins
Kidney Diseases
Retina
Testis
Myocardium
Skeletal Muscle
Spleen
Chromosomes
Amino Acids
Mutation
Brain
Proteins
polycystic kidney disease 2 protein

ASJC Scopus subject areas

  • Genetics

Cite this

Identification of PKD2L, a human PKD2-related gene : Tissue-specific expression and mapping to chromosome 10q25. / Wu, Guanqing; Hayashi, Tomohito; Park, Jong Hoon; Dixit, Mehul; Reynolds, David M.; Li, Li; Maeda, Yoshiko; Cai, Yiqiang; Coca-Prados, Miguel; Somlo, Stefan.

In: Genomics, Vol. 54, No. 3, 15.12.1998, p. 564-568.

Research output: Contribution to journalArticle

Wu, G, Hayashi, T, Park, JH, Dixit, M, Reynolds, DM, Li, L, Maeda, Y, Cai, Y, Coca-Prados, M & Somlo, S 1998, 'Identification of PKD2L, a human PKD2-related gene: Tissue-specific expression and mapping to chromosome 10q25', Genomics, vol. 54, no. 3, pp. 564-568. https://doi.org/10.1006/geno.1998.5618
Wu, Guanqing ; Hayashi, Tomohito ; Park, Jong Hoon ; Dixit, Mehul ; Reynolds, David M. ; Li, Li ; Maeda, Yoshiko ; Cai, Yiqiang ; Coca-Prados, Miguel ; Somlo, Stefan. / Identification of PKD2L, a human PKD2-related gene : Tissue-specific expression and mapping to chromosome 10q25. In: Genomics. 1998 ; Vol. 54, No. 3. pp. 564-568.
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