Identification Of Tissue-specific Alternative Splicing Of Chinese Population Using Human Whole Genome Exon Microarray

Each eukaroytic gene consists of introns and exons and is transcribed into pre-mRNA, from which different mRNAs are formed through alternative splicing with selectively combined exons. Different combinations of exons in mature mRNAs from one gene could result in funtionally different, even opposite, protein isoforms. Alternative splicing dramatically expands the protein-coding potential of higher eukaryotes. More than 60 % of human genes are estimated to have more than one isoform. Alternative pre - mRNA splicing is the most important mechanism for the regulation of gene expression and protein diversity. it is also one of the important reasons for the quantitative differences of genes and proteins in human being. Therefore the studying of alternative splicing is very important for perceiving gene regulation, disease development, and drug screening. Using the whole genomic human exon microarray from Affymetrix, tissue-specific exons had been identified from tissues of blood, liver, stomach, pituitary, or breast taken from three normal Chinese individuals. Totally 272 blood-specific, 78 stomach-specific, 123 liver-specific, 98 pituitary-specific and 42 breast-specific exons had been identified. Three tissue-specific exons were further validated by RT-PCR.The tissue map data obtained in this study will pave the way for further functional analysis of these identified genes.