Journal
GENOMICS
Volume 81, Issue 6, Pages 596-608Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/S0888-7543(03)00048-X
Keywords
polycystin; GPS; PLAT/LH2; sensor module; PKD1L2; PKD1L3; TRP channel; REJ
Funding
- NIDDK NIH HHS [DK54053, T32 DK07356, P50 DK57328, DK51041] Funding Source: Medline
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Mutations to the prototypical members of the two general classes of polycystins, polycystin-1 encoded by PKD1 and polycystin-2 encoded by PKD2, underlie autosomal-dominant polycystic kidney disease. Here we report the identification of a pair of genes homologous to PKD1 from both the human and mouse genomes. PKD1L2 and PKD1L3 are located on human chromosome 16q22-q23 and mouse chromosome 8 and are alternatively spliced. The human and mouse forms of PKD1L2 are highly conserved, with each one consisting of 43 exons and similar to2,460 codons. PKD1L3 shows regional sequence divergence, with the mouse form having two additional exons and a much larger exon 5. The predicted protein products of PKD1L2 and PKD1L3 contain the combination of GPS and PLAT/LH2 domains that uniquely define them as polycystin-1 family members. They are predicted to have 11 membrane-spanning regions with a large extracellular domain consistent with the proposed receptor function of this protein family. PKD1L2 and PKD1L3 contain strong ion channel signature motifs that suggest their possible function as components of cation channel pores. Polycystin-l-related proteins may not only regulate channels, but may actually be part of the pore-forming unit. (C) 2003 Elsevier Science (USA). All rights reserved.
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