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Puberty onset is a developmental process influenced by genetic determinants, environment, and nutrition. Mutations and regulatory gene networks constitute the molecular basis for the genetic determinants of puberty onset. The emerging knowledge of these genetic determinants presents opportunities for innovation in the breeding of early pubertal cattle. This paper presents new data on hypothalamic gene expression related to puberty in Bos indicus (Brahman) in age- and weight-matched heifers. Six postpubertal heifers were compared with 6 prepubertal heifers using whole-genome RNA sequencing methodology for quantification of global gene expression in the hypothalamus. Five transcription factors (TF) with potential regulatory roles in the hypothalamus were identified in this experiment: E2F8, NFAT5, SIX5, ZBTB38, and ZNF605. These TF genes were significantly differentially expressed in the hypothalamus of postpubertal versus prepubertal heifers and were also identified as significant according to the applied regulatory impact factor metric (P < 0.05). Two of these 5 TF, ZBTB38 and ZNF605, were zinc fingers, belonging to a gene family previously reported to have a central regulatory role in mammalian puberty. The SIX5 gene belongs to the family of homologues of Drosophila sine oculis (SIX) genes implicated in transcriptional regulation of gonadotrope gene expression. Tumor-related genes such as E2F8 and NFAT5 are known to affect basic cellular processes that are relevant in both cancer and developmental processes. Mutations in NFAT5 were associated with puberty in humans. Mutations in these TF, together with other genetic determinants previously discovered, could be used in genomic selection to predict the genetic merit of cattle (i.e., the likelihood of the offspring presenting earlier than average puberty for Brahman). Knowledge of key mutations involved in genetic traits is an advantage for genomic prediction because it can increase its accuracy. [ABSTRACT FROM AUTHOR]

The objective was to identify single nucleotide polymorphisms (SNP) associated to fertility in cows raised under a subtropical environment. Re-sequencing of nine genes associated to GH-IGF endocrine pathway, which are located in bovine chromosomes 5, 16 and 20, identified 73 SNP useful for associative genetic studies; however, only seven resulted as polymorphic and unique to the Romosinuano breed. Then, DNA samples were extracted from 129 beef heifers and used to determine genotypes corresponding to each SNP. Mixed model analysis identified one SNP from the PAPP-A2 gene (C/T, rs110490898) as predictor (P<0.05) of reproductive performance. The allele T was the most favorable allele (P<0.05), because it was associated with lower age at first calving (-37.1 ± 14.4 d) and age at second calving (-65.43 ± 30.8 d). In the contrast analysis, the linear term resulted as significant and quadratic term as non significant, which suggested an additive effect of the alleles. These results provide evidence to support the PAPP-A2 gene as a candidate gene associated to reproductive performance in heifers and first-calf cows from the Romosinuano breed, raised under a subtropical environment. [ABSTRACT FROM AUTHOR]

El objetivo fue identificar polimorfismos de un solo nucleótido (SNP) asociados a la fertilidad en hembras bovinas criadas en subtropico. La re-secuenciación de nueve genes relacionados al eje endocrino GH-IGF, localizados en los cromosomas 5, 16 y 20 del bovino, identificó 73 SNP útiles para estudios genéticos asociativos; sin embargo, sólo siete resultaron polimórficos y exclusivos de la raza Romosinuano. Muestras de ADN se extrajeron de 129 vaquillas Romosinuano y usadas para determinar los genotipos correspondientes a cada SNP. Un análisis de modelos mixtos identificó únicamente a un polimorfismo del gen PAPP-A2 (C/T, rs110490898) como predictor (P<0.05) del comportamiento reproductivo. El alelo T fue el más favorable (P<0.05) ya que éste se asoció a una reducción tanto en la edad al primer parto (-37.1 ± 14.4 días), como en la edad al segundo parto (-65.43 ± 30.8 días). En el análisis de contrastes el término lineal resultó significativo (P<0.05), pero no el quadrático, lo cual sugiere un efecto aditivo de los alelos. Los resultados proporcionan evidencia para proponer al gen PAPP-A2, como candidato asociado al comportamiento reproductivo en vaquillas y vacas primerizas de la raza Romosinuano. [ABSTRACT FROM AUTHOR]