The tuberin (TSC2), autosomal dominant polycystic kidney disease (PKD1), and somatostatin type V receptor (SSTR5) genes form a synteny group in the Fugu genome
- PMID: 8954784
- DOI: 10.1006/geno.1996.0596
The tuberin (TSC2), autosomal dominant polycystic kidney disease (PKD1), and somatostatin type V receptor (SSTR5) genes form a synteny group in the Fugu genome
Abstract
The tuberous sclerosis 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes are adjacent on human chromosome 16p13.3 and form part of a conserved synteny group with mouse chromosome 17. We have determined that the PKD1 gene is evolutionarily conserved, single copy, and linked to TSC2 in the Fugu genome. A short cosmid contig has been identified containing both genes based on hybridization, exon trapping, and random sequence data. In addition sequences homologous to the somatostatin type V receptor (SSTR5) were identified 5' to PKD1, defining a larger syntenic region, as this gene has also been mapped to human chromosome 16p13.3. As in mammalian genomes, the Fugu TSC2 and PKD1 genes are adjacent in a tail-to-tail orientation.
Similar articles
-
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.Nat Genet. 1994 Dec;8(4):328-32. doi: 10.1038/ng1294-328. Nat Genet. 1994. PMID: 7894481
-
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.Eur J Hum Genet. 2005 May;13(5):649-59. doi: 10.1038/sj.ejhg.5201392. Eur J Hum Genet. 2005. PMID: 15770226
-
Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay.Am J Kidney Dis. 2007 Jan;49(1):e11-21. doi: 10.1053/j.ajkd.2006.10.024. Am J Kidney Dis. 2007. PMID: 17185137
-
The cell cycle and tuberous sclerosis.Prog Cell Cycle Res. 2003;5:43-8. Prog Cell Cycle Res. 2003. PMID: 14593699 Review.
-
[Pathogenesis of cystic kidney diseases].Verh Dtsch Ges Pathol. 2002;86:138-44. Verh Dtsch Ges Pathol. 2002. PMID: 12647363 Review. German.
Cited by
-
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation.Pituitary. 2012 Sep;15(3):342-9. doi: 10.1007/s11102-011-0325-0. Pituitary. 2012. PMID: 21744088 Free PMC article.
-
Molecular pharmacology of somatostatin receptor subtypes.J Endocrinol Invest. 1997 Jun;20(6):348-67. doi: 10.1007/BF03350317. J Endocrinol Invest. 1997. PMID: 9294784 Review. No abstract available.
-
Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13.Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13068-72. doi: 10.1073/pnas.95.22.13068. Proc Natl Acad Sci U S A. 1998. PMID: 9789042 Free PMC article.
-
Prospects for mTOR inhibitor use in patients with polycystic kidney disease and hamartomatous diseases.Clin J Am Soc Nephrol. 2010 Jul;5(7):1312-29. doi: 10.2215/CJN.01360210. Epub 2010 May 24. Clin J Am Soc Nephrol. 2010. PMID: 20498248 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Research Materials
