A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview.

Human Genetics
Jian-Min ChenDavid N Cooper

Abstract

The 3' regulatory regions (3' RRs) of human genes play an important role in regulating mRNA 3' end formation, stability/degradation, nuclear export, subcellular localization and translation and are consequently rich in regulatory elements. Although 3' RRs contain only approximately 0.2% of known disease-associated mutations, this is likely to represent a rather conservative estimate of their actual prevalence. In an attempt to catalogue 3' RR-mediated disease and also to gain a greater understanding of the functional role of regulatory elements within 3' RRs, we have performed a systematic analysis of disease-associated 3' RR variants; 121 3' RR variants in 94 human genes were collated. These included 17 mutations in the upstream core polyadenylation signal sequence (UCPAS), 81 in the upstream sequence (USS) between the translational termination codon and the UCPAS, 6 in the left arm of the 'spacer' sequence (LAS) between the UCPAS and the pre-mRNA cleavage site (CS), 3 in the right arm of the 'spacer' sequence (RAS) or downstream core polyadenylation signal sequence (DCPAS) and 7 in the downstream sequence (DSS) of the 3'-flanking region, with 7 further mutations being treated as isolated examples. All the UCPAS mutations and ...Continue Reading

References

May 25, 1992·Proceedings of the National Academy of Sciences of the United States of America·D RundA Oppenheim
Jul 17, 1992·Science·T TakeshitaK Sugamura
May 17, 1991·Cell·Y XiongD Beach
Aug 17, 1990·European Journal of Biochemistry·J KreysingV Gieselmann
May 1, 1990·British Journal of Haematology·L JankovicT H Huisman
Dec 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·V GieselmannK von Figura
Apr 1, 1987·Molecular and Cellular Biology·M D SheetsM P Wickens
Nov 24, 1983·Nature·D R HiggsN J Proudfoot
Oct 13, 1981·Biochemistry·C Wolfenstein-Todel, M W Mosesson
Jan 1, 1995·Human Mutation·M L KimberlandH H Kazazian
Jul 25, 1995·Nucleic Acids Research·F ChenJ Wilusz
May 1, 1994·British Journal of Haematology·C L HarteveldL F Bernini
Dec 1, 1993·Human Molecular Genetics·G A HarrisonD W Cooper
Jul 1, 1997·Nucleic Acids Research·G Edwalds-GilbertC Milcarek
May 23, 1998·Human Molecular Genetics·M Q Zhang
Nov 26, 1999·Proceedings of the National Academy of Sciences of the United States of America·J H GraberT F Smith
Jul 19, 2000·Genome Research·E BeaudoingD Gautheret

❮ Previous
Next ❯

Citations

Feb 8, 2013·Journal of Human Genetics·Farahnaz Amini, Endom Ismail
Aug 1, 2013·Nature Communications·Quan LiHui-Qi Qu
Mar 21, 2008·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Aiko IzumiHiroshi Kunugi
May 25, 2010·Nature Reviews. Cancer·Bríd M RyanCurtis C Harris
Oct 1, 2008·Proceedings of the National Academy of Sciences of the United States of America·B S PickardW J Muir
Oct 2, 2012·Genetic Testing and Molecular Biomarkers·Imen BoumaizaAli Bouslama
Nov 30, 2011·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Colleen L DoçiMark W Lingen
Apr 17, 2008·Cancer Research·Mark P PurdueKatherine A McGlynn
Dec 15, 2010·Respiratory Research·Ewa ZiętkiewiczMichał Witt
Oct 27, 2011·Critical Care : the Official Journal of the Critical Care Forum·Taka-aki NakadaKeith R Walley
Oct 24, 2014·BMC Genomics·Luis G León-NoveloRita M Graze
Apr 30, 2014·Cell Biochemistry and Biophysics·Pingjiang YeTao Liu

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.