Case study gene duplication

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Functional divergence after gene duplication and sequence-structure relationship: a case-study of G-protein alpha subunits. Ying Zheng , Iowa State University. In this study, I use animal G-protein alpha subunit family as an example to illustrate a comprehensive analytical pipeline for detecting different types of functional divergence of protein families, which is phylogeny-dependent, combined with ancestral sequence inference and available protein structure information. In particular, I focus on i Type-I functional divergence, or site-specific rate shift, as typically exemplified by amino acid residue highly conserved in a subset of homologous genes but highly variable in a different subset of homologous genes, and ii Type-II functional divergence, or the shift of cluster-specific amino acid property, as exemplified by a radical shift of amino acid property between duplicate genes, which is otherwise evolutionally conserved. In the case of G-protein alpha subunit gene family, I have tested the significance of functional divergence between subfamily Gq and Gs, and predicted the candidate amino acid residues related to either Type-I or Type-II functional divergence.
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Gene duplication

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Face facts: Children who carry one extra copy of 15q tend to have short noses and full cheeks. Children who carry an extra copy of the 15q region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research 1. The study is the largest to date characterizing the effects of a rare type of duplication in this region. Deletion of the paternal copy causes Prader-Willi syndrome, characterized by intellectual disability and obesity. Carrying duplications in the region is a strong risk factor for autism. These duplications come in two types. Children carrying interstitial duplications tend to have milder symptoms than those with isodicentric duplications, making it all the more difficult to find them.
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Evolution by gene duplication is an event by which a gene or part of a gene can have two identical copies that can not be distinguished from each other. This phenomenon is understood to be an important source of novelty in evolution, providing for an expanded repertoire of molecular activities. The underlying mutational event of duplication may be a conventional gene duplication mutation within a chromosome, or a larger-scale event involving whole chromosomes aneuploidy or whole genomes polyploidy. A classic view, owing to Susumu Ohno , [1] which is known as Ohno model, he explains how duplication creates redundancy, the redundant copy accumulates beneficial mutations which provides fuel for innovation. Several models exist that try to explain how new cellular functions of genes and their encoded protein products evolve through the mechanism of duplication and divergence.
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Metrics details. The pentalogy of Cantrell is rare clustering of congenital defects, first described by Cantrell and colleagues in The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated; however, a failure of embryogenesis has been suspected.
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