1,721,092 research outputs found

    Liguri apuani del Sannio. Un viaggio tra storia e genetica

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    La presente pubblicazione si compone di due distinte parti, da un lato le risultanze della indagine sul DNA di soggetti dell’area ligure–apuana e dell’Alto Sannio, scelti secondo criteri di storicità dei loro cognomi, dall’altro una sintesi di una più organica pubblicazione che sarà edita nel 2021 dedicata alla deportazione e ai fatti che la precedettero e la seguirono

    Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes

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    Human DHRS2 and DHRS4 genes code for similar NADP-dependent short-chain carbonyl-reductase enzymes having different substrate specificity. Human DHRS2 and DHRS4 enzymes share several common sequence motives including residues responsible for coenzyme binding as well as for the intimate catalytic oxido-reductase mechanism, while their substrate-binding sequences have very low similarity. We found that DHRS2 and DHRS4 genes are syntenic outparalogues originated from a duplication of the DHRS4 gene that took place before the formation of the mammalian clade. DHRS2 gene evolved more rapidly and underwent positive selection on more sites than the DHRS4 gene. DHRS2 sites under positive selection were mainly located on the enzyme active site thus showing that substrate specificity drove the divergence from the DHRS4 enzyme. Rapid divergent evolution brought the human DHRS2 enzyme to have subcellular localization, synthesis regulation and specialized cellular functions very different from those of the human DHRS4 enzym

    Marcatori molecolari per lo studio della biodiversità umana

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    I. L’evoluzione lascia tracce nel nostro DNA II. Variazioni a singolo nucleotide III. Variazioni nel numero di copie IV. Variazioni strutturali V. Applicazioni: datazioni molecolari (la questione dei tassi di mutazione) VI. Altre applicazion

    Gene Structure Evolution of the Short-Chain Dehydrogenase/Reductase (SDR) Family

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    SDR (Short-chain Dehydrogenases/Reductases) are one of the oldest and heterogeneous superfamily of proteins, whose classification is problematic because of the low percent identity, even within families. To get clearer insights into SDR molecular evolution, we explored the splicing site organization of the 75 human SDR genes across their vertebrate and invertebrate orthologs. We found anomalous gene structures in members of the human SDR7C and SDR42E families that provide clues of retrogene properties and independent evolutionary trajectories from a common invertebrate ancestor. The same analyses revealed that the identity value between human and invertebrate nonallelic variants is not necessarily associated with the homologous gene structure. Accordingly, a revision of the SDR nomenclature is proposed by including the human SDR40C1 and SDR7C gene in the same family
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