Literature DB >> 12372422

Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene.

Masaaki Hayashi1, Yasuhito Shimada, Yuhei Nishimura, Takaaki Hama, Toshio Tanaka.   

Abstract

We have characterized the gene for human phosphodiesterase 8B, PDE8B, and cloned the full-length cDNA for human PDE8B (PDE8B1) and two splice variants (PDE8B2 and PDE8B3). The PDE8B gene is mapped to the long arm of chromosome 5 (5q13) and is composed of 22 exons spanning over approximately 200kb. The donor and acceptor splice site sequences match the consensus sequences for the exon-intron boundaries of most eukaryotic genes. PDE8B1 encodes an 885 amino acid enzyme, containing an N-terminal REC domain, a PAS domain, and a C-terminal catalytic domain. PDE8B2 and PDE8B3 both have deletion in the PAS domain and encode 838 and 788 amino acid proteins, respectively. RT-PCR analysis revealed that while PDE8B1 is the most abundant variant in thyroid gland, PDE8B3, but not PDE8B1, is the most abundant form in brain. These findings suggest that selective usage of exons produces three different PDE8B variants that exhibit a tissue-specific expression pattern.

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Year:  2002        PMID: 12372422     DOI: 10.1016/s0006-291x(02)02371-9

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  18 in total

Review 1.  Cyclic nucleotide phosphodiesterase (PDE) isozymes as targets of the intracellular signalling network: benefits of PDE inhibitors in various diseases and perspectives for future therapeutic developments.

Authors:  Thérèse Keravis; Claire Lugnier
Journal:  Br J Pharmacol       Date:  2012-03       Impact factor: 8.739

Review 2.  Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment.

Authors:  Isaac Levy; Anelia Horvath; Monalisa Azevedo; Rodrigo Bertollo de Alexandre; Constantine A Stratakis
Journal:  Curr Opin Pharmacol       Date:  2011-10-31       Impact factor: 5.547

3.  Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.

Authors:  Anelia Horvath; Fabio Faucz; Gabriela P Finkielstain; Maria Eleni Nikita; Anya Rothenbuhler; Madson Almeida; Veronica Mericq; Constantine A Stratakis
Journal:  Thyroid       Date:  2010-04       Impact factor: 6.568

Review 4.  Clinical and molecular genetics of the phosphodiesterases (PDEs).

Authors:  Monalisa F Azevedo; Fabio R Faucz; Eirini Bimpaki; Anelia Horvath; Isaac Levy; Rodrigo B de Alexandre; Faiyaz Ahmad; Vincent Manganiello; Constantine A Stratakis
Journal:  Endocr Rev       Date:  2013-12-05       Impact factor: 19.871

5.  Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.

Authors:  Silke Appenzeller; Anja Schirmacher; Hartmut Halfter; Sebastian Bäumer; Manuela Pendziwiat; Vincent Timmerman; Peter De Jonghe; Klára Fekete; Florian Stögbauer; Peter Lüdemann; Margret Hund; Elgar Susanne Quabius; E Bernd Ringelstein; Gregor Kuhlenbäumer
Journal:  Am J Hum Genet       Date:  2010-01       Impact factor: 11.025

6.  Refolding and kinetic characterization of the phosphodiesterase-8A catalytic domain.

Authors:  Zier Yan; Huanchen Wang; Jiwen Cai; Hengming Ke
Journal:  Protein Expr Purif       Date:  2008-10-19       Impact factor: 1.650

7.  A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

Authors:  Anelia Horvath; Christoforos Giatzakis; Kitman Tsang; Elizabeth Greene; Paulo Osorio; Sosipatros Boikos; Rossella Libè; Yianna Patronas; Audrey Robinson-White; Elaine Remmers; Jerôme Bertherat; Maria Nesterova; Constantine A Stratakis
Journal:  Eur J Hum Genet       Date:  2008-04-23       Impact factor: 4.246

8.  Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.

Authors:  Lisette Arnaud-Lopez; Gianluca Usala; Graziano Ceresini; Braxton D Mitchell; Maria Grazia Pilia; Maria Grazia Piras; Natascia Sestu; Andrea Maschio; Fabio Busonero; Giuseppe Albai; Mariano Dei; Sandra Lai; Antonella Mulas; Laura Crisponi; Toshiko Tanaka; Stefania Bandinelli; Jack M Guralnik; Angela Loi; Lenuta Balaci; Gabriella Sole; Alessia Prinzis; Stefano Mariotti; Alan R Shuldiner; Antonio Cao; David Schlessinger; Manuela Uda; Gonçalo R Abecasis; Ramaiah Nagaraja; Serena Sanna; Silvia Naitza
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025

Review 9.  Selective phosphodiesterase inhibitors: a promising target for cognition enhancement.

Authors:  Olga A H Reneerkens; Kris Rutten; Harry W M Steinbusch; Arjan Blokland; Jos Prickaerts
Journal:  Psychopharmacology (Berl)       Date:  2008-08-16       Impact factor: 4.530

10.  Kinetic and structural studies of phosphodiesterase-8A and implication on the inhibitor selectivity.

Authors:  Huanchen Wang; Zier Yan; Serena Yang; Jiwen Cai; Howard Robinson; Hengming Ke
Journal:  Biochemistry       Date:  2008-12-02       Impact factor: 3.162

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