The ovine POU1F1 gene is localized on chromosome 1 and it contains five introns and six exons. In different mammalian species some mutations in different exons are associated with different production traits. The aim of our research was to study the POU1F1 gene nucleotide sequence to detect possible polymorphisms and their relationships with milk productive traits in Sarda breed sheep. The study had been conducted on 140 ewes, 4 or 5 years old coming from a farm located in Sardinia. All the animals were multiparous, lactating and in their third to fifth lactation. Individual milk yield had been recorded monthly and for each sample fat, protein, casein, lactose, and somatic cell count values were analysed. A jugular blood sample was collected from each ewe to perform genomic DNA extraction. PCR, SSCP and sequencing analysis were carried out to examine the six exons to highlight possible SNPs. One-way ANOVA was used to analyse association of variants with milk yield and/or its composition. Two novel SNP were found: 121 C>T in the 5'UTR of the fourth intron fragment and 249 G>A in the 3'UTR of the sixth exon fragment. The statistical analysis did not shown association between milk productive traits and the found polymorphisms. However, further investigations about the promoter region or the prophet genes, like the PROP-1, could clarify its exact role in regulating the productive traits in sheep.
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http://dx.doi.org/10.1007/s11033-012-1525-z | DOI Listing |
Elife
November 2024
Aix-Marseille University, INSERM, UMR1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France.
Anim Biosci
October 2024
College of Animal Science and Technology, Henan Agricultural University, Zhengzhou, 450046, China.
Objective: This study aims to investigate the selection history, genome regions, and candidate genes associated with different chicken body sizes, thereby providing insights into the genetic basis of complex economic traits such as chicken body size and growth.
Methods: In this study, a total of 217 individuals from eight breeds were selected. According to body size, they were divided into two groups: large chickens and bantam chickens, with four breeds in each group.
Rev Endocr Metab Disord
December 2024
Department of Paediatric Endocrinology, Great Ormond Street Children's Hospital, London, UK.
Hypoprolactinaemia is an endocrinopathy which is typically encountered as part of a combined pituitary hormone deficiency picture. The vast majority of genetic causes identified to date have been in the context of congenital hypopituitarism with multiple co-existent endocrinopathies. This is primarily with its closest hormonal relation, namely growth hormone.
View Article and Find Full Text PDFEndocr Connect
October 2024
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic.
Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CPHD (growth hormone (GH) deficiency and impaired secretion of at least one other pituitary hormone) treated with GH in our center were enrolled in the study.
View Article and Find Full Text PDFHeliyon
June 2024
Departamento de Neurobiología Celular y Molecular, Instituto de Neurobiología, Campus Juriquilla, Universidad Nacional Autónoma de México, Querétaro, Qro., 76230, Mexico.
Growth hormone (GH) is a pituitary protein that exerts pleiotropic roles in vertebrates. The mechanisms regulating GH synthesis and secretion are finely controlled by hypothalamic neuropeptides and other factors. These processes have been considerably studied in mammals but are still poorly understood in other groups.
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