Genomic imprinting is a reversible condition that causes parental-specific silencing of maternally or paternally inherited genes. Analysis of DNA and RNA from 52 human hepatocarcinoma samples revealed abnormal imprinting of genes located at chromosome 11p15 in 51% of 37 informative samples. The most frequently detected abnormality was gain of imprinting, which led to loss of expression of genes present on the maternal chromosome. As compared with matched normal liver tissue, hepatocellular carcinomas showed extinction or significant reduction of expression of one of the alleles of the CDKN1C, SLC22A1L, and IGF2 genes. Loss of maternal-specific methylation at the KvDMR1 locus in hepatocarcinoma correlated with abnormal expression of CDKN1C and IGF2, suggesting a function for KvDMR1 as a long-range imprinting center active in adult tissues. These results point to the role of epigenetic mechanisms leading to loss of expression of imprinted genes at chromosome region 11p15 in human tumors.
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http://dx.doi.org/10.1073/pnas.090087497 | DOI Listing |
World J Pediatr
January 2025
Pediatric Endocrinology, Girona Biomedical Research Institute, Hospital Dr. JosepTrueta, 17007, Girona, Spain.
Background: The impact of Prader-Willi syndrome (PWS) domain gene expression on the growth of healthy children is not well understood. This study investigated associations between PWS domain gene expression in umbilical cord tissue and prenatal and postnatal growth, considering potential sex differences.
Methods: Relative gene expression of paternally expressed MAGEL2, NDN, and SNURF-SNRPN, and the small nucleolar RNAs SNORD116 and SNORD115 were determined by real-time quantitative polymerase chain reaction in umbilical cord tissue from 122 healthy newborns (59 girls and 63 boys).
J Evol Biol
December 2024
Department of Mathematics and Statistics, University of Reading, UK.
The time needed for the evolution of mating cues that distinguish species, such as species-specific songs or plumage coloration in birds, has received little attention. Aiming to gain some understanding of the timing of the evolutionary process we here present models of how mating cues evolve in populations split into subpopulations between which there may (parapatry) or may not (allopatry) be migration. Mating cues can be either neutral or directly selected.
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January 2025
Clarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK; OXION Initiative in Ion Channels and Disease, University of Oxford, Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK. Electronic address:
TASK-1 and TASK-3 are pH-sensitive two-pore domain (K2P/KCNK) K channels. Their functional roles make them promising targets for treatment of multiple disorders including sleep apnea, pain, and atrial fibrillation. Mutations in these channels are also associated with neurodevelopmental and hypertensive disorders.
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