Insulin is a secreted peptide that controls glucose homeostasis in mammals, and insulin biosynthesis is regulated by glucose at many levels. Rodent insulin is encoded by two non-allelic genes. We have identified a novel splice variant of the insulin2 gene in mice that constitutes about 75% of total insulin2 mRNA. The alternate splicing does not alter the ORF but reduces the 5'UTR by 12 bases. A reporter gene containing the novel short 5'UTR, is more efficiently expressed in cells, suggesting that alternative splicing of insulin mRNA in mice could result in an additional level of regulation in insulin biosynthesis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.febslet.2010.02.020 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.
Life Sci Alliance
March 2025
Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal
Variants in the hereditary cancer-associated and genes can alter RNA splicing, producing transcripts that encode internally truncated yet potentially functional proteins. However, few studies have quantitatively analyzed variant-specific splicing isoforms. Here, we investigated cells heterozygous and homozygous for the :c.
View Article and Find Full Text PDFCongenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.
J Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
View Article and Find Full Text PDFNovel variant alters splicing of in family with features of Loeys-Dietz syndrome.
Front 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 PDFMulti-omics data integration reveals novel genes related to autoimmune hypothyroidism in the brain: A molecular basis for the brain-thyroid axis.
Prog Neuropsychopharmacol Biol Psychiatry
December 2024
Tianjin Fourth Central Hospital, The Affiliated Hospital of Tianjin Medical University, Tianjin 300140, China. Electronic address:
Background: The mechanisms underlying the complex relationship between autoimmune hypothyroidism and neurological disorders remain unclear. We conducted a comprehensive analysis of associations between alternative splicing, transcriptomics, and proteomics data and autoimmune hypothyroidism.
Methods: Splicing-Wide association studies (SWAS), proteome-wide association studies (PWAS), and transcriptome-wide association studies (TWAS) were used to identify genes and proteins that regulate autoimmune hypothyroidism within the brain axis.
[Clinical characteristics and pathogenic variant analysis in a pedigree with syndromic hearing loss caused by likely pathogenic variants in the gene].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Department of Otorhinolaryngology, the Affiliated Children Hospital of Zhengzhou University, Zhengzhou450052, China.
To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!