title: A critical functional missense mutation (H173R) in the bovine PROP1 gene significantly affects growth traits in cattle.
abstract: The PROP1 protein, encoded by the prophet of Pit-1 (PROP1) gene, exhibits both DNA-binding and transcriptional activation abilities. Its expression leads to the ontogenesis of growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH), and pituitary hormone. The missense mutation H173R in PROP1 may result in deficiencies of GH, PRL, TSH, and Pit-1, thereby affecting growth traits. The objective of this study was to characterize the H173R mutation within the PROP1 gene and examine its associations with growth traits in cattle. Accordingly, the H173R mutation was genotyped in 1207 cows belonging to five Chinese native breeds. Three genotypes were identified among the specimens, with genotype AA being the major one. Consequently, the "G" allele was the minor allele. Association testing revealed that the H173R mutation was significantly associated with body weight, average daily weight gain and physical parameters in the analyzed breeds. Interestingly, the cows with genotype AG and/or AA had superior growth traits compared with those expressing the GG genotype, in all tested breeds. These findings revealed that the "A" allele had positive effects on growth traits, which was consistent with the increasing binding ability and enhanced activation capacity associated with the bovine isoform PROP1-173H, representing the "A" allele. Therefore, the H173R mutation can be considered as a DNA marker for selecting individuals with superior growth traits, thereby contributing to research on breeding and genetics in the beef industry.
authors.affiliation: College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, PR China. Electronic address: panyu1980@126.com.
authors.forename: Chuanying
authors.initials: C
authors.lastname: Pan
authors.forename: Chongyang
authors.initials: C
authors.lastname: Wu
authors.forename: Wenchao
authors.initials: W
authors.lastname: Jia
authors.forename: Yao
authors.initials: Y
authors.lastname: Xu
authors.forename: Chuzhao
authors.initials: C
authors.lastname: Lei
authors.forename: Shenrong
authors.initials: S
authors.lastname: Hu
authors.forename: Xianyong
authors.initials: X
authors.lastname: Lan
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
mesh_terms: D019943:Amino Acid Substitution / Q000502:physiology; D000818:Animals; D001120:Arginine / Q000235:genetics; D001947:Breeding / Q000379:methods; D002417:Cattle / Q000235:genetics* / Q000254:growth & development; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000502:physiology; D005838:Genotype; D048788:Growth and Development / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D008297:Male; D020125:Mutation, Missense / Q000502:physiology; D019655:Quantitative Trait, Heritable
chemical_list: D005819:Genetic Markers; D018398:Homeodomain Proteins; C102134:Prophet of Pit-1 protein; D006639:Histidine; D001120:Arginine
keywords: Association; Bovine; CPHD; GH; GLI family zinc finger 3; GLI3; GLM; Growth traits; HESX1; HWE; Hardy–Weinberg equilibrium; He; LHX3; LHX4; LIM homeobox 3 gene; LIM homeobox 4 gene; MAF; MAS; Mutation; Ne; PAX7; PCR-RFLP; PIC; PITX1; PITX2; PRL; PROP1; PROP1 gene; Pit-1 (also known as POU1F1); SIX3; SIX6; SNP; TSH; TSH-β; base pair; bp; combined pituitary hormone deficiency; effective allele numbers; gene heterozygosity; general linear model; growth hormone; homeobox expressed in ES cells 1; marker-assisted selection; minor allele frequency; paired box protein pax-7; paired-like homeodomain transcription factor 1; paired-like homeodomain transcription factor 2; pituitary-specific transcription factor 1; polymerase chain reaction-restriction fragment length polymorphism; polymorphism information content; prolactin; prophet of pituitary specific transcription factor 1 (Pit-1); sine oculis homeobox homolog 3; sine oculis homeobox homolog 6; single-nucleotide polymorphisms; thyroid-stimulating hormone beta; thyrotropic-stimulating hormone