Download Human Gene Evolution (Human Molecular Genetics S.) by David Cooper PDF

By David Cooper

The tale of our evolutionary previous is advised in our genome series. Human Gene Evolution offers with the origins of human genes, describes their constitution, functionality, company and expression. The textual content integrates our rising wisdom of chromosome and genome constitution, and discusses the character of the mutational mechanisms underlying evolutionary switch.

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1993). Spliceosomal structure and function has been conserved in eukaryotes from yeast to humans (WentzHunter and Potashkin, 1995). Polycistronic and polyprotein genes. ’ However, some multi-chain protein genes encode more than one polypeptide. In such cases, synthesis of the mature protein involves the post-translational cleavage of a polypeptide precursor followed by association of the constituent chains. Thus, the human insulin (INS; 11p15) gene encodes an A chain, a B chain, and a connecting peptide which is thought to be important in maintaining the conformation of the two chains.

1998). , 1989). 3 DNA methylation 5-methylcytosine (5mC) is the most common form of DNA modification in eukaryotic genomes. Soon after DNA synthesis is complete, target cytosines are modified by a DNA methyltransferase using S-adenosylmethionine as methyl donor. In humans, between 70% and 90% of 5mC occurs in CpG dinucleotides, the majority of which appear to be methylated (Cooper, 1983). Whereas the vertebrate genome is heavily methylated, methylation is virtually undetectable in insects and other arthropods (Cooper, 1983).

When these values are recalculated on a gene-specific basis, considerable variation becomes apparent. The frequency of CG→TG and CG→CA mutations may be smaller than 10% (HBB (4%), HPRT1 (5%), TTR (9%)) or larger than 50% (MYH7 (67%), ADA (63%), RB1 (57%)). In the assumed absence of a detection bias (Cooper and Krawczak, 1993), we may surmise that this variation is due either to differences in (a) germline DNA methylation and/or (b) relative intragenic CpG frequency (itself dependent upon (a)). Imbalances in the propensity to transition at CpG dinucleotides exist even between the two DNA strands.

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