title: Non-synonymous mutations mapped to chromosome X associated with andrological and growth traits in beef cattle.
abstract: BACKGROUND
  Previous genome-wide association analyses identified QTL regions in the X chromosome for percentage of normal sperm and scrotal circumference in Brahman and Tropical Composite cattle. These traits are important to be studied because they are indicators of male fertility and are correlated with female sexual precocity and reproductive longevity. The aim was to investigate candidate genes in these regions and to identify putative causative mutations that influence these traits. In addition, we tested the identified mutations for female fertility and growth traits.
  
  
  RESULTS
  Using a combination of bioinformatics and molecular assay technology, twelve non-synonymous SNPs in eleven genes were genotyped in a cattle population. Three and nine SNPs explained more than 1% of the additive genetic variance for percentage of normal sperm and scrotal circumference, respectively. The SNPs that had a major influence in percentage of normal sperm were mapped to LOC100138021 and TAF7L genes; and in TEX11 and AR genes for scrotal circumference. One SNP in TEX11 was explained ~13% of the additive genetic variance for scrotal circumference at 12 months. The tested SNP were also associated with weight measurements, but not with female fertility traits.
  
  
  CONCLUSIONS
  The strong association of SNPs located in X chromosome genes with male fertility traits validates the QTL. The implicated genes became good candidates to be used for genetic evaluation, without detrimentally influencing female fertility traits.
authors.affiliation: Departamento de Zootecnia, Universidade Estadual Paulista (Unesp), Jaboticabal, SP, 14884-900, Brazil. gregoriocamargo@hotmail.com.|Commonwealth Scientific and Industrial Research Organization, Agriculture Flagship, St Lucia, QLD, 4067, Australia. gregoriocamargo@hotmail.com.|School of Chemistry and Molecular Bioscience, The University of Queensland, St Lucia Brisbane, QLD, 4072, Australia. gregoriocamargo@hotmail.com.
authors.forename: Gregório Miguel Ferreira
authors.initials: GM
authors.lastname: de Camargo
authors.affiliation: Commonwealth Scientific and Industrial Research Organization, Agriculture Flagship, St Lucia, QLD, 4067, Australia. laercio.portoneto@csiro.au.
authors.forename: Laercio R
authors.initials: LR
authors.lastname: Porto-Neto
authors.affiliation: School of Chemistry and Molecular Bioscience, The University of Queensland, St Lucia Brisbane, QLD, 4072, Australia. m.kelly7@uq.edu.au.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Kelly
authors.affiliation: Commonwealth Scientific and Industrial Research Organization, Agriculture Flagship, St Lucia, QLD, 4067, Australia. rowan.bunch@csiro.au.
authors.forename: Rowan J
authors.initials: RJ
authors.lastname: Bunch
authors.affiliation: Commonwealth Scientific and Industrial Research Organization, Agriculture Flagship, St Lucia, QLD, 4067, Australia. sean.mcwilliam@csiro.au.
authors.forename: Sean M
authors.initials: SM
authors.lastname: McWilliam
authors.affiliation: Departamento de Zootecnia, Universidade Estadual Paulista (Unesp), Jaboticabal, SP, 14884-900, Brazil. tonhati@fcav.unesp.br.
authors.forename: Humberto
authors.initials: H
authors.lastname: Tonhati
authors.affiliation: Commonwealth Scientific and Industrial Research Organization, Agriculture Flagship, St Lucia, QLD, 4067, Australia. sigrid.lehnert@csiro.au.
authors.forename: Sigrid A
authors.initials: SA
authors.lastname: Lehnert
authors.affiliation: School of Chemistry and Molecular Bioscience, The University of Queensland, St Lucia Brisbane, QLD, 4072, Australia. m.fortes@uq.edu.au.
authors.forename: Marina R S
authors.initials: MR
authors.lastname: Fortes
authors.affiliation: Queensland Alliance for Agriculture and Food Innovation, Centre for Animal Science, The University of Queensland, Brisbane, QLD, 4067, Australia. s.moore3@uq.edu.au.
authors.forename: Stephen S
authors.initials: SS
authors.lastname: Moore
mesh_terms: D033441:Andrology; D000818:Animals; D002417:Cattle / Q000033:anatomy & histology / Q000235:genetics* / Q000254:growth & development* / Q000502:physiology; D005260:Female; D005298:Fertility / Q000235:genetics; D060005:Genotyping Techniques; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D000069466:Red Meat; D012611:Scrotum / Q000033:anatomy & histology; D013094:Spermatozoa / Q000166:cytology; D014960:X Chromosome / Q000235:genetics*