Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: Sequence, expression, alternative splicing, and chromosomal localization

Genomics

Volumn 64, Issue 3, 2000, Pages 241-251

  Guo, Lei ^a   Schreiber, Taylor H ^a   Weremowicz, Stanislawa ^a   Morton, Cynthia C ^a   Lee, Charles ^a   Zhou, Jing ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; POLYCYSTIN;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 18; CHROMOSOME 5Q; DNA SEQUENCE; GENE MAPPING; GENOME; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR CLONING; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; TISSUE DISTRIBUTION;

MURINAE; RODENTIA;

EID: 0343619383     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2000.6131     Document Type: Article

References (34)

1. Altschul S. F., Gish W., Miller W., Myers E. W., Lipman D. J. Basic local alignment search tool. J. Mol. Biol. 215:1990;403-410.
2. Atala A., Freeman M. R., Mandell J., Beier D. R. Juvenile cystic kidneys (jck): A new mouse mutation which causes polycystic kidneys. Kidney Int. 43:1993;1081-1085.
3. Bryda E. C., Ling H., Rathbun D. E., Burmeister M., Flaherty L. Fine genetic map of mouse chromosome 10 around the polycystic kidney disease gene, jcpk, and ankyrin 3. Genomics. 35:1996;425-430.
4. Chen X. Z., Vassilev P. M., Basora N., Peng J. B., Nomura H., Segal Y., Brown E. M., Reeders S. T., Hediger M. A., Zhou J. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Nature. 401:1999;383-386.
5. Dalphin M. E., Brown C. M., Stockwell P. A., Tate W. P. The translational signal database, TransTerm, is now a relational database. Nucleic Acids Res. 26:1998;335-337.
6. Davisson M. T., Guay-Woodford L. M., Harris H. W., D'Eustachio P. The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12. Genomics. 9:1991;778-781.
7. 2+ channels. Science. 270:1995;1502-1506.
8. Fairman J., Chumakov I., Chinault A. C., Nowell P. C., Nagarajan L. Physical mapping of the minimal region of loss in 5q- chromosome. Proc. Natl. Acad. Sci. USA. 92:1995;7406-7410.
9. Hirokawa T., Boon-Chieng S., Mitaku S. SOSUI: Classification and secondary structure prediction system for membrane proteins. Bioinformatics. 14:1998;378-379.
10. Hughes J., Ward C. J., Aspinwall R., Butler R., Harris P. C. Identification of a human homologue of the sea urchin receptor for egg jelly: A polycystic kidney disease-like protein. Hum. Mol. Genet. 8:1999;543-549.
11. Hughes J., Ward C. J., Peral B., Aspinwall R., Clark K., San Millan J. L., Gamble V., Harris P. C. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat. Genet. 10:1995;151-160.
12. Cell. 81:1995;289-298.
13. Janaswami P. M., Birkenmeier E. H., Cook S. A., Rowe L. B., Bronson R. T., Davisson M. T. Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8. Genomics. 40:1997;101-107.
14. Kim E., Arnould T., Sellin L. K., Benzing T., Fan M. J., Gruning W., Sokol S. Y., Drummond I., Walz G. The polycystic kidney disease 1 gene product modulates Wnt signaling. J. Biol. Chem. 274:1999;4947-4953.
15. Kozak M. Interpreting cDNA sequences: Some insights from studies on translation. Mamm. Genome. 7:1996;563-574.
16. Lu W., Peissel B., Babakhanlou H., Pavlova A., Geng L., Fan X., Larson C., Brent G., Zhou J. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat. Genet. 17:1997;179-181.
17. Lupas A., Van Dyke M., Stock J. Predicting coiled coils from protein sequences. Science. 252:1991;1162-1164.
18. Mochizuki T., Wu G., Hayashi T., Xenophontos S. L., Veldhuisen B., Saris J. J., Reynolds D. M., Cai Y., Gabow P. A., Pierides A., Kimberling W. J., Breuning M. H., Deltas C. C., Peters D. J., Somlo S. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 272:1996;1339-1342.
19. Mucher G., Becker J., Knapp M., Buttner R., Moser M., Rudnik-Schoneborn S., Somlo S., Germino G., Onuchic L., Avner E., Guay-Woodford L., Zerres K. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. Genomics. 48:1998;40-45.
20. Neuman W. L., Le Beau M. M., Farber R. A., Lindgren V., Westbrook C. A. Somatic cell hybrid mapping of human chromosome band 5q31: A region important to hematopoiesis. Cytogenet. Cell. Genet. 61:1992;103-106.
21. Ney P. A., Andrews N. C., Jane S. M., Safer B., Purucker M. E., Weremowicz S., Morton C. C., Goff S. C., Orkin S. H., Nienhuis A. W. Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner. Mol. Cell. Biol. 13:1993;5604-5612.
22. Nomura H., Turco A. E., Pei Y., Kalaydjieva L., Schiavello T., Weremowicz S., Ji W., Morton C. C., Meisler M., Reeders S. T., Zhou J. Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J. Biol. Chem. 273:1998;25967-25973.
23. Parnell S. C., Magenheimer B. S., Maser R. L., Rankin C. A., Smine A., Okamoto T., Calvet J. P. The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro. Biochem. Biophys. Res. Commun. 251:1998;625-631.
24. Qian F., Germino F. J., Cai Y., Zhang X., Somlo S., Germino G. G. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat. Genet. 16:1997;179-183.
25. Saitou N., Nei M. The neighbor-joining method: A new method for reconstructing phylogenetic trees. Mol. Biol. Evol. 4:1987;406-425.
26. Sonnhammer E. L., von Heijne G., Krogh A. A hidden Markov model for predicting transmembrane helices in protein sequences. Intell. Syst. Molec. Biol. 6:1998;175-182.
27. Takahashi H., Calvet J. P., Dittemore-Hoover D., Yoshida K., Grantham J. J., Gattone V. H. D. A hereditary model of slowly progressive polycystic kidney disease in the mouse. J. Am. Soc. Nephrol. 1:1991;980-989.
28. Thompson J. D., Higgins D. G., Gibson T. J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22:1994;4673-4680.
29. Tsiokas L., Arnould T., Zhu C., Kim E., Walz G., Sukhatme V. P. Specific association of the gene product of PKD2 with the TRPC1 channel. Proc. Natl. Acad. Sci. USA. 96:1999;3934-3939.
30. Tsiokas L., Kim E., Arnould T., Sukhatme V. P., Walz G. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc. Natl. Acad. Sci. USA. 94:1997;6965-6970.
31. Vannier B., Zhu X., Brown D., Birnbaumer L. The membrane topology of human transient receptor potential 3 as inferred from glycosylation-scanning mutagenesis and epitope immunocytochemistry. J. Biol. Chem. 273:1998;8675-8679.
32. Wu G., D'Agati V., Cai Y., Markowitz G., Park J. H., Reynolds D. M., Maeda Y., Le T. C., Hou H. Jr., Kucherlapati R., Edelmann W., Somlo S. Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell. 93:1998a;177-188.
33. Wu G., Hayashi T., Park J. H., Dixit M., Reynolds D. M., Li L., Maeda Y., Cai Y., Coca-Prados M., Somlo S. Identification of PKD2L, a human PKD2-related gene: Tissue-specific expression and mapping to chromosome 10q25. Genomics. 54:1998b;564-568.
34. Zhao Y., Bjorbaek C., Weremowicz S., Morton C. C., Moller D. E. RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: Growth factor-stimulated kinase function and nuclear translocation. Mol. Cell. Biol. 15:1995;4353-4363.