Mouse genomic variation and its effect on phenotypes and gene regulation
Thomas M Keane
(1)
,
Leo Goodstadt
(2)
,
Petr Danecek
(1)
,
Michael A White
(3)
,
Kim Wong
(1)
,
Binnaz Yalcin
(2)
,
Andreas Heger
(4)
,
Avigail Agam
(2, 4)
,
Guy Slater
(1)
,
Martin Goodson
(2)
,
Nicholas A Furlotte
(5)
,
Eleazar Eskin
(5)
,
Christoffer Nellåker
(4)
,
Helen Whitley
(2)
,
James Cleak
(2)
,
Deborah Janowitz
(2, 6)
,
Polinka Hernandez-Pliego
(2)
,
Andrew Edwards
(2)
,
T Grant Belgard
(4)
,
Peter L Oliver
(4)
,
Rebecca E Mcintyre
(1)
,
Amarjit Bhomra
(2)
,
Jérôme Nicod
(2)
,
Xiangchao Gan
(2)
,
Wei Yuan
(2)
,
Louise van der Weyden
(1)
,
Charles A Steward
(1)
,
Sendu Bala
(1)
,
Jim Stalker
(1)
,
Richard Mott
(2)
,
Richard Durbin
(1)
,
Ian J Jackson
(7)
,
Anne Czechanski
(8)
,
José Afonso Guerra-Assunção
(9)
,
Leah Rae Donahue
(8)
,
Laura G Reinholdt
(8)
,
Bret A Payseur
(3)
,
Chris P Ponting
(4)
,
Ewan Birney
(9)
,
Jonathan Flint
(2)
,
David J Adams
(1)
1
The Wellcome Trust Sanger Institute [Cambridge]
2 The Wellcome Trust Centre for Human Genetics [Oxford]
3 University of Wisconsin-Madison
4 University of Oxford
5 UCLA - University of California [Los Angeles]
6 Ernst-Moritz-Arndt-Universität Greifswald
7 Medical Research Council (MRC) Human Genetics Unit [Edinburgh]
8 JAX - The Jackson Laboratory [Bar Harbor]
9 EMBL-EBI - European Bioinformatics Institute [Hinxton]
2 The Wellcome Trust Centre for Human Genetics [Oxford]
3 University of Wisconsin-Madison
4 University of Oxford
5 UCLA - University of California [Los Angeles]
6 Ernst-Moritz-Arndt-Universität Greifswald
7 Medical Research Council (MRC) Human Genetics Unit [Edinburgh]
8 JAX - The Jackson Laboratory [Bar Harbor]
9 EMBL-EBI - European Bioinformatics Institute [Hinxton]
Binnaz Yalcin
- Function : Author
- PersonId : 184213
- IdHAL : yalcin-binnaz
- ORCID : 0000-0002-1924-6807
- IdRef : 174793170
Abstract
We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to explore the phylogenetic history of the laboratory mouse and to examine the functional consequences of allele-specific variation on transcript abundance, revealing that at least 12% of transcripts show a significant tissue-specific expression bias. By identifying candidate functional variants at 718 quantitative trait loci we show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus. These sequences provide a starting point for a new era in the functional analysis of a key model organism.
Domains
Life Sciences [q-bio]
Origin : Publication funded by an institution