Alternative splicing is a sophisticated nuclear process that regulates gene expression. It represents an important mechanism for enhancing the functional diversity of proteins. Our current knowledge of alternatively spliced variants is derived mainly from mRNA transcripts, and very little is known about their protein tertiary structures. We carried out a large-scale analysis of known alternativ...

The misfolding of the protein α-synuclein is a major contributor to Parkinson’s disease (PD). Three mutations (A53T, A30P and E46K) cause familial PD, and three newly discovered spliced variant forms of the protein (syn-126, syn-112, and syn-98) are also found in many PD patients. Little is known about whether these familial mutants can influence each other’s contributing properties and whether...

We have previously reported that the expression of periostin mRNA is significantly repressed in human bladder cancer tissues, and that periostin plays a role as a suppressive factor for invasion and metastasis in the progression of human bladder cancers. In this study, to clarify the role of alternative splicing of periostin in human bladder carcinogenesis, we examined the expression of wild-ty...

results approximately 20% of the patients expressed alternatively spliced transcripts of gla mrna involving exon 3. we additionally report that such non-canonical transcripts are physiologically expressed at trace levels in healthy individuals, and that their expression in leukocytes markedly increased in blood samples kept at room-temperature for 48 hours before rna extraction. background defi...

Phosphoenolpyruvate carboxykinase 1 (PCK1), also named PEPCK-C, is a multiple-function gene that is involved in gluconeogenesis, glyceroneogenesis, reproduction, female fertility, and development of obesity and diabetes. How its many functions are regulated was largely unknown. Therefore, we investigated mRNA expression and possible splice variants of PCK1 by screening cDNA in nine tissues from...

The pregnane X receptor (PXR; NR1I2) and the farnesoid X receptor (FXR; NR1H4) regulate the expression of many major metabolic enzymes. With the pig being used as a model for humans in metabolic and toxicological studies and also an important food animal, we characterized the transactivation profile of the porcine orthologs of these receptors, pgPXR and pgFXR. We compared the transactivation pr...

Five alternatively spliced variants have been identified for the KLK5 gene. These variants differ in the number and length of the 5' untranslated exons and/or the last two coding exons. Tissue-specific expression of these variants is regulated by multiple promoters located in the first exon of each isoform. KLK5 splice variants were found to be differentially expressed, at the mRNA level, in ov...

AIM To analyze the alternatively spliced variant of Stam2 mRNA and determine its distribution in mouse tissues. METHODS We identified a novel alternatively spliced exon by cloning and sequencing of Stam2 cDNA obtained from tissue samples of 3-5 months old male C57Bl/6NCrl mice. The sequence of the alternatively spliced exon was analyzed by bioinformatic tools. The tissue distribution of diffe...

OBJECTIVE To delineate age-dependent and tissue-specific molecular activities of the variant-inclusion fibronectin transcripts in fetal and postnatal skin and airway mucosal wounds during early events of the wound healing process. Fibronectin is involved in multiple steps of the wound healing process. The functional complexity of fibronectin is carried through its protein diversity, which is co...