Alternative splicing of EKLF/KLF1 in murine primary erythroid tissues

Role of Aberrant Alternative Splicing in Cancer

Alternative splicing can alter genome sequence and as a consequence, many genes change to oncogenes. This event can also affect protein function and diversity. The growing number of study elucidate the pathological influence of impaired alternative splicing events on numerous disease including cancer. Here, we would like to highlight the significant role of alternative splicing in cancer biolog...

The Effect Of Sudemycin Treatment On Alternative Splicing In Primary Murine Hematopoietic Cells Expressing Mutant U2af1

Alternative splicing of GTBP in normal human tissues.

GTBP is one of the functional homologues of the bacterial mismatch repair gene mutS, whose product forms a heterodimer with hMSH2 to bind to the mismatched region of double-stranded DNA. We determined the expression of the GTBP gene and found that two forms of the transcripts were ubiquitously expressed in normal human tissues. These transcripts, termed GTBP-N and GTBP-ALT, were generated by th...

Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of b-Thalassemic Patients

Background: b-Thalassemia is a common autosomal recessive disorder in human caused by a defect in b-globin chain synthesis. The most common mutations causing b-Thalassemia have been found to be splicing mutations. Most of which activate aberrant cryptic splicing/sites without complete disruption of normal splicing. IVSI-110 mutation, a common splicing mutation, leads to a 90% reduction of norma...

Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1

More than 60% of myeloid dysplasia syndrome (MDS) contains mutations in genes encoding for splicing factors such as SF3B1, U2AF, SRSF2 and ZRSR2. Mutations in SF3B1 are associated with 80% cases of refractory anemia with ring sideroblast (RARS), a subtype of MDS. SF3B1K700E is the most frequently mutated site among mutations on SF3B1. Yet the molecular mechanisms on how mutations of splicing fa...