Genome-wide analysis of alternative splicing in cow: implications in bovine as a model for human diseases
Open Access
- 1 January 2009
- journal article
- Published by Springer Nature in BMC Genomics
- Vol. 10 (Suppl 3) , S11
- https://doi.org/10.1186/1471-2164-10-s3-s11
Abstract
Alternative splicing (AS) is a primary mechanism of functional regulation in the human genome, with 60% to 80% of human genes being alternatively spliced. As part of the bovine genome annotation team, we have analysed 4567 bovine AS genes, compared to 16715 human and 16491 mouse AS genes, along with Gene Ontology (GO) analysis. We also analysed the two most important events, cassette exons and intron retention in 94 human disease genes and mapped them to the bovine orthologous genes. Of the 94 human inherited disease genes, a protein domain analysis was carried out for the transcript sequences of 12 human genes that have orthologous genes and have been characterised in cow.Keywords
This publication has 37 references indexed in Scilit:
- Alternative splicing and diseaseBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2008
- ECgene: an alternative splicing database updateNucleic Acids Research, 2006
- The ASAP II database: analysis and comparative genomics of alternative splicing in 15 animal speciesNucleic Acids Research, 2006
- ASGS: an alternative splicing graph web serviceNucleic Acids Research, 2006
- ASD: a bioinformatics resource on alternative splicingNucleic Acids Research, 2006
- DEDB: a database of Drosophila melanogaster exons in splicing graph formBMC Bioinformatics, 2004
- The Alternative Splicing Gallery (ASG): bridging the gap between genome and transcriptomeNucleic Acids Research, 2004
- ASD: the Alternative Splicing DatabaseNucleic Acids Research, 2004
- Alternative splicing: multiple control mechanisms and involvement in human diseaseTrends in Genetics, 2002
- The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequencesHuman Genetics, 1992