Alternative splicing is widespread in mammalian gene expression, and variant splice patterns are often specific to different stages of development, particular tissues or a disease state. There is a need to systematically collect data on alternatively spliced exons, introns and splice isoforms, and to annotate this data. The Alternative Splicing Database consortium has been addressing this need,...

Dieser Erfahrungsbericht schildert Erfahrungen mit der Grundausbildung in Programmiersprachen. Soweit es ging, konnten Studenten aktiv lernen. Auch die Leistungskontrolle sollte einen aktiven Charakter bekommen: gleichzeitig von den Studenten aktiv erlebt und gestaltet werden, ihnen aber auch Feedback geben und am Ende benotet werden. Dabei erwies sich die klassische Klausur als ungeeignet. Der...

BACKGROUND Several alternatively-spliced mRNA transcripts of the follicle stimulating hormone receptor (FSHR) have been identified in sheep, including FSHR-1 (G protein-coupled form), FSHR-2 (dominant negative form), and FSHR-3 (growth factor type-1 form). Our objective was to determine which of these variants is predominantly expressed in follicles collected from ewes at various times after es...

BACKGROUND Most eukaryotic genes are divided into introns and exons. Upon transcription, the intronic segments are eliminated and the exonic sequences spliced together through a series of complex processing events. Alternative splicing refers to the optional inclusion or exclusion of specific exons in transcripts derived from a single gene, which leads to structural and functional changes in th...

Increased risk for autism spectrum disorders (ASD) is attributed to hundreds of genetic loci. The convergence of ASD variants have been investigated using various approaches, including protein interactions extracted from the published literature. However, these datasets are frequently incomplete, carry biases and are limited to interactions of a single splicing isoform, which may not be express...

The most common cause of primary autosomal recessive microcephaly (MCPH) appears to be mutations in the ASPM gene which is involved in the regulation of neurogenesis. The predicted gene product contains two putative N-terminal calponin-homology (CH) domains and a block of putative calmodulin-binding IQ domains common in actin binding cytoskeletal and signaling proteins. Previous studies in mous...