Transcriptomic insights into genetic diversity of protein-coding genes in X. laevis

被引:4
作者
Savova, Virginia [1 ]
Pearl, Esther J. [2 ]
Boke, Elvan [1 ]
Nag, Anwesha [3 ,4 ]
Adzhubei, Ivan [5 ]
Horb, Marko E. [2 ]
Peshkin, Leonid [1 ]
机构
[1] Harvard Med Sch, Dept Syst Biol, Boston, MA 02115 USA
[2] Natl Xenopus Resource & Bell Ctr Regenerat Biol &, Marine Biol Lab, Woods Hole, MA 02543 USA
[3] Harvard Med Sch, Dana Farber Canc Inst, 450 Brookline Ave, Boston, MA 02215 USA
[4] Harvard Med Sch, Dept Genet, 450 Brookline Ave, Boston, MA 02215 USA
[5] Harvard Med Sch, Brigham & Womens Hosp, Div Genet, Boston, MA 02115 USA
关键词
EVOLUTION; GENOME; DISCOVERY;
D O I
10.1016/j.ydbio.2017.02.019
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
We characterize the genetic diversity of Xenopus laevis strains using RNA-seq data and allele-specific analysis. This data provides a catalogue of coding variation, which can be used for improving the genomic sequence, as well as for better sequence alignment, probe design, and proteomic analysis. In addition, we paint a broad picture of the genetic landscape of the species by functionally annotating different classes of mutations with a well-established prediction tool (PolyPhen-2). Further, we specifically compare the variation in the progeny of four crosses: inbred genomic (J)-strain, outbred albino (B)-strain, and two hybrid crosses of J and B strains. We identify a subset of mutations specific to the B strain, which allows us to investigate the selection pressures affecting duplicated genes in this allotetraploid. From these crosses we find the ratio of non-synonymous to synonymous mutations is lower in duplicated genes, which suggests that they are under greater purifying selection. Surprisingly, we also find that function-altering ("damaging") mutations constitute a greater fraction of the non-synonymous variants in this group, which suggests a role for subfunctionalization in coding variation affecting duplicated genes.
引用
收藏
页码:181 / 188
页数:8
相关论文
共 32 条
  • [1] A method and server for predicting damaging missense mutations
    Adzhubei, Ivan A.
    Schmidt, Steffen
    Peshkin, Leonid
    Ramensky, Vasily E.
    Gerasimova, Anna
    Bork, Peer
    Kondrashov, Alexey S.
    Sunyaev, Shamil R.
    [J]. NATURE METHODS, 2010, 7 (04) : 248 - 249
  • [2] The majority of transcripts in the squid nervous system are extensively recoded by A-to-I RNA editing
    Alon, Shahar
    Garrett, Sandra C.
    Levanon, Erez Y.
    Olson, Sara
    Graveley, Brenton R.
    Rosenthal, Joshua J. C.
    Eisenberg, Eli
    [J]. ELIFE, 2015, 4
  • [3] An integrated map of genetic variation from 1,092 human genomes
    Altshuler, David M.
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Donnelly, Peter
    Eichler, Evan E.
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Green, Eric D.
    Hurles, Matthew E.
    Knoppers, Bartha M.
    Korbel, Jan O.
    Lander, Eric S.
    Lee, Charles
    Lehrach, Hans
    Mardis, Elaine R.
    Marth, Gabor T.
    McVean, Gil A.
    Nickerson, Deborah A.
    Schmidt, Jeanette P.
    Sherry, Stephen T.
    Wang, Jun
    Wilson, Richard K.
    Gibbs, Richard A.
    Dinh, Huyen
    Kovar, Christie
    Lee, Sandra
    Lewis, Lora
    Muzny, Donna
    Reid, Jeff
    Wang, Min
    Wang, Jun
    Fang, Xiaodong
    Guo, Xiaosen
    Jian, Min
    Jiang, Hui
    Jin, Xin
    Li, Guoqing
    Li, Jingxiang
    Li, Yingrui
    Li, Zhuo
    Liu, Xiao
    Lu, Yao
    Ma, Xuedi
    Su, Zhe
    Tai, Shuaishuai
    Tang, Meifang
    [J]. NATURE, 2012, 491 (7422) : 56 - 65
  • [4] [Anonymous], 1994, NORMAL TABLE OF XENO
  • [5] Trimmomatic: a flexible trimmer for Illumina sequence data
    Bolger, Anthony M.
    Lohse, Marc
    Usadel, Bjoern
    [J]. BIOINFORMATICS, 2014, 30 (15) : 2114 - 2120
  • [6] A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
    Cingolani, Pablo
    Platts, Adrian
    Wang, Le Lily
    Coon, Melissa
    Tung Nguyen
    Wang, Luan
    Land, Susan J.
    Lu, Xiangyi
    Ruden, Douglas M.
    [J]. FLY, 2012, 6 (02) : 80 - 92
  • [7] Cui XQ, 2006, GENETICS, V174, P627, DOI 10.1534/genetics.106.060251
  • [8] Interpreting human genetic variation with in vivo zebrafish assays
    Davis, Erica E.
    Frangakis, Stephan
    Katsanis, Nicholas
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2014, 1842 (10): : 1960 - 1970
  • [9] Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing
    del Viso, Florencia
    Bhattacharya, Dipankan
    Kong, Yong
    Gilchrist, Michael J.
    Khokha, Mustafa K.
    [J]. BMC GENOMICS, 2012, 13
  • [10] A framework for variation discovery and genotyping using next-generation DNA sequencing data
    DePristo, Mark A.
    Banks, Eric
    Poplin, Ryan
    Garimella, Kiran V.
    Maguire, Jared R.
    Hartl, Christopher
    Philippakis, Anthony A.
    del Angel, Guillermo
    Rivas, Manuel A.
    Hanna, Matt
    McKenna, Aaron
    Fennell, Tim J.
    Kernytsky, Andrew M.
    Sivachenko, Andrey Y.
    Cibulskis, Kristian
    Gabriel, Stacey B.
    Altshuler, David
    Daly, Mark J.
    [J]. NATURE GENETICS, 2011, 43 (05) : 491 - +