Human evolutionary genetics

Human evolutionary genetics studies how one human genome differs from another human genome, the evolutionary past that gave rise to the human genome, and its current effects. Differences between genomes have anthropological, medical, historical and forensic implications and applications. Genetic data can provide important insights into human evolution. Biologists classify humans, along with only a few other species, as great apes (species in the family Hominidae). The living Hominidae include two distinct species of chimpanzee (the bonobo, Pan paniscus, and the chimpanzee, Pan troglodytes), two species of gorilla (the western gorilla, Gorilla gorilla, and the eastern gorilla, Gorilla graueri), and two species of orangutan (the Bornean orangutan, Pongo pygmaeus, and the Sumatran orangutan, Pongo abelii). The great apes with the family Hylobatidae of gibbons form the superfamily Hominoidea of apes. Apes, in turn, belong to the primate order (>400 species), along with the Old World monkeys, the New World monkeys, and others. Data from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) indicate that primates belong to the group of Euarchontoglires, together with Rodentia, Lagomorpha, Dermoptera, and Scandentia. This is further supported by Alu-like short interspersed nuclear elements (SINEs) which have been found only in members of the Euarchontoglires. A phylogenetic tree is usually derived from DNA or protein sequences from populations. Often, mitochondrial DNA or Y chromosome sequences are used to study ancient human demographics. These single-locus sources of DNA do not recombine and are almost always inherited from a single parent, with only one known exception in mtDNA. Individuals from closer geographic regions generally tend to be more similar than individuals from regions farther away. Distance on a phylogenetic tree can be used approximately to indicate: Genetic distance. The genetic difference between humans and chimpanzees is less than 2%, or three times larger than the variation among modern humans (estimated at 0.

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Hominidae

Les Hominidae, ou Hominidés, sont une famille de primates simiiformes rassemblant les genres actuels Pongo (orang-outan), Gorilla (gorille), Pan (chimpanzé) et Homo. S'y trouvent également un certain nombre de genres fossiles apparentés, ancêtres ou plus souvent collatéraux des ancêtres des quatre genres actuels. Cette famille admet pour groupe frère les Hylobatidés, d'autres singes sans queue, couramment appelés gibbons, comprenant quatre genres et une vingtaine d'espèces.

Human evolutionary genetics

Capacité crânienne

vignette|Comparaison, de gauche à droite, d'un cerveau de sanglier, de grand dauphin et d'humain. La capacité crânienne est une mesure du volume de l'intérieur de la boîte crânienne chez les vertébrés qui ont à la fois un crâne et un cerveau. L'unité de mesure la plus utilisée est le centimètre cube. Certains auteurs considèrent le volume du crâne comme un indicateur de la taille du cerveau, laquelle est à son tour utilisée pour indiquer approximativement l'intelligence potentielle de l'organisme.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Farah Ouechtati

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family. Ophthalmic evaluation included a full clinical examination, color vision testing and electroretinography. Linkage analysis using microsatellite markers flanking CNGA3, CNGB3, GNAT2 and PDE6C genes was performed. Mutations were screened by direct sequencing. A total of 12 individuals were diagnosed with congenital complete achromatopsia. They are members of six nuclear consanguineous families belonging to the same large consanguineous family. Linkage analysis revealed linkage to GNAT2. Mutational screening of GNAT2 revealed three intronic variations c.119-69G > C, c.161+66A > T and c.875 31G > C that co-segregated with a novel mutation p.R313X. An identical GNAT2 haplotype segregating with this mutation was identified, indicating a founder mutation. All patients were homozygous for the p.R313X mutation. This is the first report of the clinical and genetic investigation of complete achromatopsia in North Africa and the largest family with recessive achromatopsia involving GNAT2; thus, providing a unique opportunity for genotype-phenotype correlation for this extremely rare condition. Journal of Human Genetics (2011) 56, 22-28; doi:10.1038/jhg.2010.128; published online 25 November 2010

2011

Génomique : Bases moléculaires de la diversité phénotypique BIO-373: Genetics and genomics

Plonge dans la base moléculaire de la diversité phénotypique, en soulignant le rôle de l'épigénétique et des gènes non conservés dans la formation de la diversité.

Régulation des gènes : Mécanismes et réseaux de transcription MOOC: Neuroscience Reconstructed: Cell Biology

Explore les mécanismes de régulation des gènes, y compris l'accessibilité à la chromatine, le looping de l'ADN et le rôle des facteurs de transcription dans le contrôle des fonctions cellulaires.

Anticorps: Technologies et Thérapeutiques CH-317: Drug discovery and development

Explore le développement et les défis des thérapies à base d'anticorps, y compris les anticorps chimériques et humanisés, les échafaudages alternatifs et la sélection in vitro.