Due to the variant functions that estrogens play in the regulation of reproduction, development of the mammary gland, growth and differentiation of cells, estrogen receptors and their genes are considered as a candidates for the markers of production and functional traits in farm animals, including cattle. In the earliest study, a 2853-bp bovine ER gene 5'-region was PCR amplified and sequenced. Moreover, for the first time, a polymorphism was described within 5' region of the bovine ERalpha gene--A/G transition lying upstream at position 2591 from acceptor splice site +85, possibly within its promoter--which could be recognized with RFLP-BglI. In other study we are found second polymorphism-A/G transition at position 1213 from acceptor splice site +85, located in promoter for exon B. We have examined the specific mRNA expression of ERalpha in various genotypes using real-time RT-PCR. We used four animals from each genotype group--AG, GG for BglI and AA, AG for SnaBI--to analyse liver ERalpha expression at the level of Real-time PCR. Liver samples were taken from the 16 young Friesian bulls of the different ERalpha genotypes, slaughtered at the local abattoir. As shown by Real-Time PCR, on the livers of animals with different genotype ERalpha mRNA for BglI polymorphism we didn't found variability, but for SnaBI we have found variability between AG and AA genotypes.
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http://dx.doi.org/10.1007/s11033-006-9054-2 | DOI Listing |
Objective: To test whether messenger RNA (mRNA) splicing is altered in neutrophils from patients with systemic lupus erythematosus (SLE) and can produce neoantigens.
Methods: RNA sequencing of neutrophils from patients with SLE (n = 15) and healthy donors (n = 12) were analyzed for mRNA splicing using the RiboSplitter pipeline, an event-focused tool based on SplAdder with subsequent translation and protein domain annotation. RNA sequencing from SARS-CoV2-infected individuals was used as an additional comparator.
J Med Genet
January 2025
Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics, F-76000, Rouen, France
Background: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, require specialised testing. One such example is the NM_000546.
View Article and Find Full Text PDFExp Hematol
January 2025
Hematology Laboratory, Shengjing Hospital of China Medical University, Shenyang, 110022, P.R. China. Electronic address:
Circular RNA (circRNA) was first discovered in viruses in 1974, they are primarily formed through back-splicing, where a downstream splice donor is joined to an upstream splice acceptor, resulting in a closed circRNA transcript. Under normal conditions, most circRNAs are stably expressed, however, in pathological conditions, circRNAs can play critical roles in the disease process of multiple myeloma (MM) through mechanisms such as competing endogenous RNAs (ceRNAs), regulation of transcription and splicing, affecting protein expression and localization, and even direct encoding of peptides. In recent years, there has been increasing interest in the role of circRNAs in MM and their regulatory functions during the disease process.
View Article and Find Full Text PDFFront Genet
December 2024
HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.
Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement. Significant clinical variability has been noted for both related and unrelated individuals with the same pathogenic variant. We report a family of five affected individuals with notable phenotypic variability who appear to have two distinct molecular causes of LDS, one attributable to a missense variant in and the other an intronic variant 6 bp upstream from a splice junction in .
View Article and Find Full Text PDFCurr Biol
December 2024
The Hormel Institute, University of Minnesota, Austin, MN 55912, USA; Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:
Serine 31 is a phospho-site unique to the histone H3.3 variant; mitotic phospho-Ser31 is restricted to pericentromeric heterochromatin, and disruption of phospho-Ser31 results in chromosome segregation defects and loss of p53-dependant G cell-cycle arrest. Ser31 is proximal to the H3.
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