INVITED SPEAKERS / COMUNICAÇÕES POR CONVITE

 

CC-01

X-Chromosome: Genetic Framing

 

 

Fernando Regateiro^I

^IFaculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal. E-mail: fregateiro@gmail.com

 

 

Topics included: the time-frame of mammalian evolution concerning dimorphic X and Y chromosomes evolution (divergence); sex determination in heterogametic XY species and in species without sex chromosomes; characterization of Y and X chromosomes; X-inactivation and gene dosage compensation to equalize the gene dosage between the sexes and possibly also between sex chromosomes and autosomes; molecular mechanisms involved in X-inactivation as an epigenetic process; the role of the gene XIST; examples of X-linked conditions, either dominant or recessive; the chromosome distribution of 158 IQ-related genes; the effect of sex chromosome genes dosage on brain structure; genetic defects and genetic-environmental interactions associated with Alzheimer disease; the fragile-X syndrome; daltonism; X-linked genes and miRNA sexual dimorphism; hemophilia; Duchenne muscular dystrophy; Turner and Klinefelter syndromes.