Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease

Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate wi...

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Published inJournal of human genetics Vol. 56; no. 9; pp. 676 - 681
Main Authors Peiró, Ana M, Tang, Chih-Min, Murray, Fiona, Zhang, Lingzhi, Brown, Loren M, Chou, Daisy, Rassenti, Laura, Kipps, Thomas A, Insel, Paul A
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 01.09.2011
Nature Publishing Group
Subjects
5' Untranslated Regions
5' Untranslated Regions - genetics
631/208/726/649
692/699/67/1990/283/1895
Adult
Aged
Agent Orange
Biomedical and Life Sciences
Biomedicine
Chronic lymphocytic leukemia
Cyclic AMP
Cyclic Nucleotide Phosphodiesterases, Type 7 - genetics
Cyclic Nucleotide Phosphodiesterases, Type 7 - metabolism
Female
Gene Expression
Gene Frequency
Gene Function
Gene Therapy
Genetic diversity
Human Genetics
Humans
Leukemia
Leukemia, Lymphocytic, Chronic, B-Cell - genetics
Leukemia, Lymphocytic, Chronic, B-Cell - metabolism
Lymphatic leukemia
Male
Middle Aged
Molecular Medicine
mRNA
original-article
Phosphodiesterase
Polymorphism, Single Nucleotide - genetics
Promoter Regions, Genetic - genetics
RNA, Messenger - genetics
RNA, Messenger - metabolism
Single-nucleotide polymorphism
PDE7B single-nucleotide polymorphisms
chronic lymphocytic leukemia
cAMP
cyclic nucleotide phosphodiesterases
Online AccessGet full text
ISSN1434-5161
1435-232X
1435-232X
DOI10.1038/jhg.2011.80

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Abstract Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate with numerous clinical disorders (reviewed in this manuscript), we sought to identify single-nucleotide polymorphisms (SNPs) in the PDE7B gene promoter and coding region of 93 control subjects and 154 CLL patients. We found that the PDE7B gene has a 5′ non-coding region SNP −347C>T that occurs with similar frequency in CLL patients (1.9%) and controls (2.7%). Tested in vitro , −347C>T has less promoter activity than a wild-type construct. The low frequency of this 5′ untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with CLL but it has the potential to influence other settings that involve a role for PDE7B.
AbstractList Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate with numerous clinical disorders (reviewed in this manuscript), we sought to identify single-nucleotide polymorphisms (SNPs) in the PDE7B gene promoter and coding region of 93 control subjects and 154 CLL patients. We found that the PDE7B gene has a 5' non-coding region SNP -347C>T that occurs with similar frequency in CLL patients (1.9%) and controls (2.7%). Tested in vitro, -347C>T has less promoter activity than a wild-type construct. The low frequency of this 5' untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with CLL but it has the potential to influence other settings that involve a role for PDE7B.
Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate with numerous clinical disorders (reviewed in this manuscript), we sought to identify single-nucleotide polymorphisms (SNPs) in the PDE7B gene promoter and coding region of 93 control subjects and 154 CLL patients. We found that the PDE7B gene has a 5' non-coding region SNP -347C>T that occurs with similar frequency in CLL patients (1.9%) and controls (2.7%). Tested in vitro, -347C>T has less promoter activity than a wild-type construct. The low frequency of this 5' untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with CLL but it has the potential to influence other settings that involve a role for PDE7B.Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate with numerous clinical disorders (reviewed in this manuscript), we sought to identify single-nucleotide polymorphisms (SNPs) in the PDE7B gene promoter and coding region of 93 control subjects and 154 CLL patients. We found that the PDE7B gene has a 5' non-coding region SNP -347C>T that occurs with similar frequency in CLL patients (1.9%) and controls (2.7%). Tested in vitro, -347C>T has less promoter activity than a wild-type construct. The low frequency of this 5' untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with CLL but it has the potential to influence other settings that involve a role for PDE7B.
Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate with numerous clinical disorders (reviewed in this manuscript), we sought to identify single-nucleotide polymorphisms (SNPs) in the PDE7B gene promoter and coding region of 93 control subjects and 154 CLL patients. We found that the PDE7B gene has a 5′ non-coding region SNP –347C>T that occurs with similar frequency in CLL patients (1.9%) and controls (2.7%). Tested in vitro , –347C>T has less promoter activity than a wild-type construct. The low frequency of this 5′ untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with CLL but it has the potential to influence other settings that involve a role for PDE7B.
Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate with numerous clinical disorders (reviewed in this manuscript), we sought to identify single-nucleotide polymorphisms (SNPs) in the PDE7B gene promoter and coding region of 93 control subjects and 154 CLL patients. We found that the PDE7B gene has a 5′ non-coding region SNP −347C>T that occurs with similar frequency in CLL patients (1.9%) and controls (2.7%). Tested in vitro, −347C>T has less promoter activity than a wild-type construct. The low frequency of this 5′ untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with CLL but it has the potential to influence other settings that involve a role for PDE7B.
Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus suggesting that variation may occur in the PDE7B gene in CLL. As genetic variation in other PDE family members has been shown to associate with numerous clinical disorders (reviewed in this manuscript), we sought to identify single-nucleotide polymorphisms (SNPs) in the PDE7B gene promoter and coding region of 93 control subjects and 154 CLL patients. We found that the PDE7B gene has a 5′ non-coding region SNP −347C>T that occurs with similar frequency in CLL patients (1.9%) and controls (2.7%). Tested in vitro , −347C>T has less promoter activity than a wild-type construct. The low frequency of this 5′ untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with CLL but it has the potential to influence other settings that involve a role for PDE7B.
Author Peiró, Ana M
Murray, Fiona
Insel, Paul A
Rassenti, Laura
Brown, Loren M
Tang, Chih-Min
Zhang, Lingzhi
Kipps, Thomas A
Chou, Daisy
AuthorAffiliation 3 Department of Medicine, University of California, San Diego, La Jolla, CA, USA
4 Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA
1 Department of Pharmacology, University of California, San Diego, La Jolla, CA, USA
2 Department of Clinical Pharmacology, Hospital General Universitario de Alicante, Alicante, Spain
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Keywords PDE7B single-nucleotide polymorphisms
chronic lymphocytic leukemia
cAMP
cyclic nucleotide phosphodiesterases
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Snippet Expression of cyclic adenosine monophosphate-specific phosphodiesterase 7B (PDE7B) mRNA is increased in patients with chronic lymphocytic leukemia (CLL), thus...
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SubjectTerms 5' Untranslated Regions
5' Untranslated Regions - genetics
631/208/726/649
692/699/67/1990/283/1895
Adult
Aged
Agent Orange
Biomedical and Life Sciences
Biomedicine
Chronic lymphocytic leukemia
Cyclic AMP
Cyclic Nucleotide Phosphodiesterases, Type 7 - genetics
Cyclic Nucleotide Phosphodiesterases, Type 7 - metabolism
Female
Gene Expression
Gene Frequency
Gene Function
Gene Therapy
Genetic diversity
Human Genetics
Humans
Leukemia
Leukemia, Lymphocytic, Chronic, B-Cell - genetics
Leukemia, Lymphocytic, Chronic, B-Cell - metabolism
Lymphatic leukemia
Male
Middle Aged
Molecular Medicine
mRNA
original-article
Phosphodiesterase
Polymorphism, Single Nucleotide - genetics
Promoter Regions, Genetic - genetics
RNA, Messenger - genetics
RNA, Messenger - metabolism
Single-nucleotide polymorphism
Title Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease
URI https://link.springer.com/article/10.1038/jhg.2011.80
https://www.ncbi.nlm.nih.gov/pubmed/21796143
https://www.proquest.com/docview/2422035034
https://www.proquest.com/docview/1434027916
https://www.proquest.com/docview/894815843
https://pubmed.ncbi.nlm.nih.gov/PMC3833258
Volume 56
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