Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions

So, A., Jeske, Y., Gordon, R. D., Duffy, D. L., Bulmer, B. J. and Stowasser, M. (2006). Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions. In: Clinical and Experimental Pharmacology and Physiology. 27th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia, Melbourne, Australia, (A25-A25). 7-9 December, 2006. doi:10.1111/j.1440-1681.2006.04428.x


Author So, A.
Jeske, Y.
Gordon, R. D.
Duffy, D. L.
Bulmer, B. J.
Stowasser, M.
Title of paper Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions
Conference name 27th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia
Conference location Melbourne, Australia
Conference dates 7-9 December, 2006
Proceedings title Clinical and Experimental Pharmacology and Physiology   Check publisher's open access policy
Journal name Clinical and experimental pharmacology   Check publisher's open access policy
Place of Publication Oxford, UK
Publisher Blackwell
Publication Year 2006
DOI 10.1111/j.1440-1681.2006.04428.x
ISSN 0305-1870
Volume 33
Issue 7
Start page A25
End page A25
Total pages 1
Collection year 2006
Language eng
Abstract/Summary Once thought rare, primary aldosteronism (PAL) is now reported to be responsible for 5–10% of hypertension. Unlike familial hyperaldosteronism type I (FH-I), FH-II is not glucocorticoidremediable and not associated with the hybrid CYP11B1/CYP11B2 gene mutation. At least five times more common than FH-I, FH-II is clinically indistinguishable from apparently sporadic PAL, suggesting an even higher incidence. Studies performed in collaboration with C Stratakis (NIH, Bethesda) on our largest Australian family (eight affected members) demonstrated linkage at chromosome 7p22. Linkage at this region was also found in a South American family (DNA provided by MI New, Mount Sinai School of Medicine, New York) and in a second Australian family. The combined multipoint LOD score for these 3 families is 4.61 (q = 0) with markers D7S462 and D7S517, providing strong support for this locus harbouring mutations responsible for FH-II. A newly identified recombination event in our largest Australian family has narrowed the region of linkage by 1.8 Mb, permitting exclusion of approximately half the genes residing in the originally reported 5 Mb linked locus. Candidate genes that are involved in cell cycle control are of interest as adrenal hyperplasia and adrenal adenomas are common in FH-II patients. A novel candidate gene in this linked region produces the retinoblastoma-associated Kruppel-associated box protein (RBaK) which interacts with the retinoblastoma gene product to repress the expression of genes activated by members of the E2F family of transcription factors.
Subjects EX
320503 Clinical Pharmacology and Therapeutics
730118 Organs, diseases and abnormal conditions not elsewhere classified
1101 Medical Biochemistry and Metabolomics
1102 Cardiovascular Medicine and Haematology
Keyword 7p22
Familial hyperaldosteronism type II
RBAK coding regions
Q-Index Code EX

 
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Created: Thu, 23 Aug 2007, 21:59:19 EST