Embrapa Cattle-Southeast, Rodovia Washington Luiz, km 234, CEP 13560-970, São Carlos, SP, Brazil.
Published: February 2012
AI Article Synopsis
Article Abstract
This study aimed to investigate differential allele expression (DAE) and polymorphism and parent-of-origin effects on expression of genes related to beef traits. CAST, related to meat tenderness, and DGAT1 and leptin, related to fat deposition, were evaluated. In bovine fetal tissues CAST was expressed twice as much (P < 0.05) in muscle of homozygous GG than in heterozygous AG. Leptin was expressed about one-tenth as much (P < 0.05) in heterozygous TpCm (allele T of paternal origin and allele C of maternal origin) than in homozygous CC. No DAE was observed. The evidence of polymorphism effect on expression of CAST and parent-of-origin effect on leptin contributes to a better understanding of events controlling the expression of genes of economic interest in cattle. Furthermore, if the parent-of-origin effects observed in fetal tissues are confirmed in adult tissues and associated to phenotypic variation, this parental origin criterion may be considered in marker-assisted selection of beef traits.
Background: The human ZFP57 gene is a major regulator of imprinted genes, maintaining DNA methylation marks that distinguish parent-of-origin-specific alleles. DNA methylation of the gene itself has shown sensitivity to environmental stimuli, particularly folate status. However, the role of DNA methylation in ZFP57's own regulation has not been fully investigated.
This study aimed to investigate the role of IRF6 gene polymorphisms in individuals with Non-syndromic Orofacial Cleft (NSOFC) in Kerala.
The research involved analyzing DNA from 100 case-parent triads and specifically focused on the polymorphisms rs2235371 and rs7552506 using PCR and Sanger sequencing.
Results indicated a significant association between rs2235371 and NSOFC, particularly linked to paternal ancestry, while rs7552506 exhibited maternal linkage, suggesting IRF6 could be a risk factor for NSOFC in this population.
Introduction: The cause of increased diabetes mellitus (DM) risk in individuals with Turner syndrome (TS) is poorly understood. Parent-of-origin effects related to whether the maternal or paternal X chromosome (Xchr) remains intact have been found for several TS phenotypes, including hypercholesterolemia. Therefore, Xchr parent-of-origin may impact DM risk in TS.
The study aimed to clarify the role of X chromosome parent of origin (POX) in phenotypic variations associated with Klinefelter syndrome (XXY) by analyzing a larger cohort and more detailed assessments.
Researchers sequenced genomes of 58 XXY individuals and their parents and evaluated 66 neurobehavioral traits and over 1000 anatomical features, discovering that maternal POX was present in 60.3% of cases but found no significant POX effects on cognitive or behavioral outcomes.
However, neuroimaging revealed two brain regions with greater surface area associated with paternal POX, indicating some localized anatomical differences but no corresponding behavioral impacts, suggesting the need to explore other factors
