A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.
We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals a...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2012-01-01
|
| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC3305398?pdf=render |
| _version_ | 1828848037378654208 |
|---|---|
| author | Arnaud Sartelet Tom Druet Charles Michaux Corinne Fasquelle Sarah Géron Nico Tamma Zhiyan Zhang Wouter Coppieters Michel Georges Carole Charlier |
| author_facet | Arnaud Sartelet Tom Druet Charles Michaux Corinne Fasquelle Sarah Géron Nico Tamma Zhiyan Zhang Wouter Coppieters Michel Georges Carole Charlier |
| author_sort | Arnaud Sartelet |
| collection | DOAJ |
| description | We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make the remarkable observation that 26% of healthy Belgian Blue animals carry the corresponding variant. We demonstrate in a prospective study design that approximately one third of homozygous mutants die prematurely with major inflammatory lesions, hence explaining the rarity of growth-stunted animals despite the high frequency of carriers. We provide preliminary evidence that heterozygous advantage for an as of yet unidentified phenotype may have caused a selective sweep accounting for the high frequency of the RNF11 c124-2A>G mutation in Belgian Blue Cattle. |
| first_indexed | 2024-12-12T22:21:58Z |
| format | Article |
| id | doaj.art-2fe4abecfd254044bfc28b7cf17ef0e1 |
| institution | Directory Open Access Journal |
| issn | 1553-7390 1553-7404 |
| language | English |
| last_indexed | 2024-12-12T22:21:58Z |
| publishDate | 2012-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj.art-2fe4abecfd254044bfc28b7cf17ef0e12022-12-22T00:09:53ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042012-01-0183e100258110.1371/journal.pgen.1002581A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.Arnaud SarteletTom DruetCharles MichauxCorinne FasquelleSarah GéronNico TammaZhiyan ZhangWouter CoppietersMichel GeorgesCarole CharlierWe report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make the remarkable observation that 26% of healthy Belgian Blue animals carry the corresponding variant. We demonstrate in a prospective study design that approximately one third of homozygous mutants die prematurely with major inflammatory lesions, hence explaining the rarity of growth-stunted animals despite the high frequency of carriers. We provide preliminary evidence that heterozygous advantage for an as of yet unidentified phenotype may have caused a selective sweep accounting for the high frequency of the RNF11 c124-2A>G mutation in Belgian Blue Cattle.http://europepmc.org/articles/PMC3305398?pdf=render |
| spellingShingle | Arnaud Sartelet Tom Druet Charles Michaux Corinne Fasquelle Sarah Géron Nico Tamma Zhiyan Zhang Wouter Coppieters Michel Georges Carole Charlier A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. PLoS Genetics |
| title | A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. |
| title_full | A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. |
| title_fullStr | A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. |
| title_full_unstemmed | A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. |
| title_short | A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. |
| title_sort | splice site variant in the bovine rnf11 gene compromises growth and regulation of the inflammatory response |
| url | http://europepmc.org/articles/PMC3305398?pdf=render |
| work_keys_str_mv | AT arnaudsartelet asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT tomdruet asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT charlesmichaux asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT corinnefasquelle asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT sarahgeron asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT nicotamma asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT zhiyanzhang asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT woutercoppieters asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT michelgeorges asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT carolecharlier asplicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT arnaudsartelet splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT tomdruet splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT charlesmichaux splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT corinnefasquelle splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT sarahgeron splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT nicotamma splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT zhiyanzhang splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT woutercoppieters splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT michelgeorges splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse AT carolecharlier splicesitevariantinthebovinernf11genecompromisesgrowthandregulationoftheinflammatoryresponse |