Exploring the Impact of Single-Nucleotide Polymorphisms on Translation

被引:133
作者
Robert, Francis [1 ]
Pelletier, Jerry [1 ,2 ,3 ]
机构
[1] McGill Univ, Dept Biochem, Montreal, PQ, Canada
[2] McGill Univ, Dept Oncol, Montreal, PQ, Canada
[3] McGill Univ, Rosalind & Morris Goodman Canc Res Ctr, Montreal, PQ, Canada
基金
加拿大健康研究院;
关键词
translation initiation; eIF4F; ribosome recruitment; SNP; genetic variant; INTERNAL RIBOSOME ENTRY; OPEN READING FRAMES; 5' NONCODING REGION; MESSENGER-RNA; UNTRANSLATED REGIONS; PROTEIN EXPRESSION; GENETIC-VARIATION; BREAST-CANCER; BINDING; MUTATIONS;
D O I
10.3389/fgene.2018.00507
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Over the past 15 years, sequencing of the human genome and The Cancer Genome Atlas (TCGA) project have led to comprehensive lists of single-nucleotide polymorphisms (SNPs) and gene mutations across a large number of human samples. However, our ability to predict the functional impact of SNPs and mutations on gene expression is still in its infancy. Here, we provide key examples to help understand how mutations present in genes can affect translational output.
引用
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页数:11
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共 92 条
[42]  
KOZAK M, 1991, J BIOL CHEM, V266, P19867
[44]   Computational SNP Analysis: Current Approaches and Future Prospects [J].
Kumar, Ambuj ;
Rajendran, Vidya ;
Sethumadhavan, Rao ;
Shukla, Priyank ;
Tiwari, Shalinee ;
Purohit, Rituraj .
CELL BIOCHEMISTRY AND BIOPHYSICS, 2014, 68 (02) :233-239
[45]   Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm [J].
Kumar, Prateek ;
Henikoff, Steven ;
Ng, Pauline C. .
NATURE PROTOCOLS, 2009, 4 (07) :1073-1082
[46]   Initial sequencing and analysis of the human genome [J].
Lander, ES ;
Int Human Genome Sequencing Consortium ;
Linton, LM ;
Birren, B ;
Nusbaum, C ;
Zody, MC ;
Baldwin, J ;
Devon, K ;
Dewar, K ;
Doyle, M ;
FitzHugh, W ;
Funke, R ;
Gage, D ;
Harris, K ;
Heaford, A ;
Howland, J ;
Kann, L ;
Lehoczky, J ;
LeVine, R ;
McEwan, P ;
McKernan, K ;
Meldrim, J ;
Mesirov, JP ;
Miranda, C ;
Morris, W ;
Naylor, J ;
Raymond, C ;
Rosetti, M ;
Santos, R ;
Sheridan, A ;
Sougnez, C ;
Stange-Thomann, N ;
Stojanovic, N ;
Subramanian, A ;
Wyman, D ;
Rogers, J ;
Sulston, J ;
Ainscough, R ;
Beck, S ;
Bentley, D ;
Burton, J ;
Clee, C ;
Carter, N ;
Coulson, A ;
Deadman, R ;
Deloukas, P ;
Dunham, A ;
Dunham, I ;
Durbin, R ;
French, L .
NATURE, 2001, 409 (6822) :860-921
[47]   Distinct stages of the translation elongation cycle revealed by sequencing ribosome-protected mRNA fragments [J].
Lareau, Liana F. ;
Hite, Dustin H. ;
Hogan, Gregory J. ;
Brown, Patrick O. .
ELIFE, 2014, 3
[48]   Genetic variation rs7930 in the miR-4273-5p target site is associated with a risk of colorectal cancer [J].
Lee, Ah-Reum ;
Park, Jongkeun ;
Jung, Keum Ji ;
Jee, Sun Ha ;
Kim-Yoon, Sungjoo .
ONCOTARGETS AND THERAPY, 2016, 9 :6885-6895
[49]   Bioinformatics Tools for Discovery and Functional Analysis of Single Nucleotide Polymorphisms [J].
Li, Li ;
Wei, Dongqing .
ADVANCE IN STRUCTURAL BIOINFORMATICS, 2015, 827 :287-310
[50]   Genome-wide search for exonic variants affecting translational efficiency [J].
Li, Quan ;
Makri, Angeliki ;
Lu, Yang ;
Marchand, Luc ;
Grabs, Rosemarie ;
Rousseau, Marylene ;
Ounissi-Benkalha, Houria ;
Pelletier, Jerry ;
Robert, Francis ;
Harmsen, Eef ;
Hudson, Thomas J. ;
Pastinen, Tomi ;
Polychronakos, Constantin ;
Qu, Hui-Qi .
NATURE COMMUNICATIONS, 2013, 4