ABSTRACT
The correct identification of all human genes, and their derived transcripts, has not yet been achieved, and it remains one of the major aims of the worldwide genomics community. Computational programs suggest the existence of 30,000 to 40,000 human genes. However, definitive gene identification can only be achieved by experimental approaches. We used two distinct methodologies, one based on the alignment of mouse orthologous sequences to the human genome, and another based on the construction of a high-quality human testis cDNA library, in an attempt to identify new human transcripts within the human genome sequence. We generated 47 complete human transcript sequences, comprising 27 unannotated and 20 annotated sequences. Eight of these transcripts are variants of previously known genes. These transcripts were characterized according to size, number of exons, and chromosomal localization, and a search for protein domains was undertaken based on their putative open reading frames. In silico expression analysis suggests that some of these transcripts are expressed at low levels and in a restricted set of tissues.
Subject(s)
Humans , Animals , Male , Mice , DNA, Complementary/genetics , Genome, Human , Sequence Analysis, DNA/methods , Testis/chemistry , Transcription, Genetic/genetics , Amino Acid Sequence , Chromosome Mapping , Gene Library , Molecular Sequence DataABSTRACT
Although alternative splicing of many genes has been found associated with different stages of tumorigenesis and splicing variants have been characterized as tumor markers, it is still not known whether these examples are sporadic or whether there is a broader association between the two phenomena. In this report we evaluated, through a bioinformatics approach, the expression of splicing factors in both normal and tumor tissues. This was possible by integrating data produced by proteomics, serial analysis of gene expression (SAGE) and microarray experiments. We observed a significant shift in the expression of splicing factors in tumors in both SAGE and microarray data, resulting from a large amount of experiments. We discuss that this supports the notion of a broader association between alternative splicing and cell transformation, and that splicing factors may be involved in oncogenic pathways.
Subject(s)
Humans , Alternative Splicing/genetics , Gene Expression Regulation, Neoplastic/genetics , Neoplasms/genetics , Gene Dosage , Gene Expression Profiling/methods , Genetic Markers/genetics , Proteomics , Tumor Cells, Cultured , Biomarkers, Tumor/geneticsABSTRACT
In this report we deal with the interesting repertoire of autoantigens and discuss that they represent functional and evolutionary conserved sites in proteins. In addition, we show that the autoantibodies spontaneously generated against these antoantigens can be useful tools in the study of important cellular phenomena.