Evidence for and localization of proposed causative variants in cattle and pig genomes
Abstract Background This paper reviews the localization of published potential causative variants in contemporary pig and cattle reference genomes, and the evidence for their causality. In spite of the difficulties inherent to the identification of causative variants from genetic mapping and genome-...
Main Authors: | , |
---|---|
Format: | Article |
Language: | deu |
Published: |
BMC
2021-08-01
|
Series: | Genetics Selection Evolution |
Online Access: | https://doi.org/10.1186/s12711-021-00662-x |
id |
doaj-40d6145322eb45bf9957cbb0b645bd28 |
---|---|
record_format |
Article |
spelling |
doaj-40d6145322eb45bf9957cbb0b645bd282021-09-05T11:37:43ZdeuBMCGenetics Selection Evolution1297-96862021-08-0153111810.1186/s12711-021-00662-xEvidence for and localization of proposed causative variants in cattle and pig genomesMartin Johnsson0Melissa K. Jungnickel1Department of Animal Breeding and Genetics, Swedish University of Agricultural SciencesThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of EdinburghAbstract Background This paper reviews the localization of published potential causative variants in contemporary pig and cattle reference genomes, and the evidence for their causality. In spite of the difficulties inherent to the identification of causative variants from genetic mapping and genome-wide association studies, researchers in animal genetics have proposed putative causative variants for several traits relevant to livestock breeding. Results For this review, we read the literature that supports potential causative variants in 13 genes (ABCG2, DGAT1, GHR, IGF2, MC4R, MSTN, NR6A1, PHGK1, PRKAG3, PLRL, RYR1, SYNGR2 and VRTN) in cattle and pigs, and localized them in contemporary reference genomes. We review the evidence for their causality, by aiming to separate the evidence for the locus, the proposed causative gene and the proposed causative variant, and report the bioinformatic searches and tactics needed to localize the sequence variants in the cattle or pig genome. Conclusions Taken together, there is usually good evidence for the association at the locus level, some evidence for a specific causative gene at eight of the loci, and some experimental evidence for a specific causative variant at six of the loci. We recommend that researchers who report new potential causative variants use referenced coordinate systems, show local sequence context, and submit variants to repositories.https://doi.org/10.1186/s12711-021-00662-x |
collection |
DOAJ |
language |
deu |
format |
Article |
sources |
DOAJ |
author |
Martin Johnsson Melissa K. Jungnickel |
spellingShingle |
Martin Johnsson Melissa K. Jungnickel Evidence for and localization of proposed causative variants in cattle and pig genomes Genetics Selection Evolution |
author_facet |
Martin Johnsson Melissa K. Jungnickel |
author_sort |
Martin Johnsson |
title |
Evidence for and localization of proposed causative variants in cattle and pig genomes |
title_short |
Evidence for and localization of proposed causative variants in cattle and pig genomes |
title_full |
Evidence for and localization of proposed causative variants in cattle and pig genomes |
title_fullStr |
Evidence for and localization of proposed causative variants in cattle and pig genomes |
title_full_unstemmed |
Evidence for and localization of proposed causative variants in cattle and pig genomes |
title_sort |
evidence for and localization of proposed causative variants in cattle and pig genomes |
publisher |
BMC |
series |
Genetics Selection Evolution |
issn |
1297-9686 |
publishDate |
2021-08-01 |
description |
Abstract Background This paper reviews the localization of published potential causative variants in contemporary pig and cattle reference genomes, and the evidence for their causality. In spite of the difficulties inherent to the identification of causative variants from genetic mapping and genome-wide association studies, researchers in animal genetics have proposed putative causative variants for several traits relevant to livestock breeding. Results For this review, we read the literature that supports potential causative variants in 13 genes (ABCG2, DGAT1, GHR, IGF2, MC4R, MSTN, NR6A1, PHGK1, PRKAG3, PLRL, RYR1, SYNGR2 and VRTN) in cattle and pigs, and localized them in contemporary reference genomes. We review the evidence for their causality, by aiming to separate the evidence for the locus, the proposed causative gene and the proposed causative variant, and report the bioinformatic searches and tactics needed to localize the sequence variants in the cattle or pig genome. Conclusions Taken together, there is usually good evidence for the association at the locus level, some evidence for a specific causative gene at eight of the loci, and some experimental evidence for a specific causative variant at six of the loci. We recommend that researchers who report new potential causative variants use referenced coordinate systems, show local sequence context, and submit variants to repositories. |
url |
https://doi.org/10.1186/s12711-021-00662-x |
work_keys_str_mv |
AT martinjohnsson evidenceforandlocalizationofproposedcausativevariantsincattleandpiggenomes AT melissakjungnickel evidenceforandlocalizationofproposedcausativevariantsincattleandpiggenomes |
_version_ |
1717814045827923968 |