Project description:We analyzed samples from two affected brothers (Affected 3 and 4) and their two affected female cousins (Affected 7 and 9) homozygous for the MLASA ? associated C656T mutation in the PUS1 gene; four parents ? heterozygous carriers of the C656T mutation (Parents 1, 2, 5, 6), and an unaffected female carrying wild-type genotype at the PUS1 gene (Control 8). In addition, two females and one male with normal hearing from Arab-Israeli family with nonsyndromic deafness carrying wild-type PUS1 sequence were used as controls (Controls 10, 11, 12). Keywords: Comparison of genome-wide expression in cell lines of patients and controls
Project description:We analyzed samples from fourteen deaf individuals (Affected 1 through 14), fifteen hearing maternally related family members (Unaffected 1-15), six marry-in controls (Controls 1-6) from extended pedigree from Arab-Israeli village, and nine individuals from another Arab-Israeli village (Controls 7-15). All affected and unaffected maternally-related individuals carry homoplasmic mutation in the 12S rRNA gene of the mitochondrial DNA, associated with both non-syndromic and aminoglycosides-induced deafness. Keywords: Comparison of genome-wide expression in cell lines of maternally-related individuals with mitochondrial mutation and controls carrying wild-type mitochondrial chromosome.
Project description:Although continual expansion of the brain during primate evolution accounts for our enhanced cognitive capabilities, the drivers of brain evolution have scarcely been explored. Tree shrews are closely related to primates that comparing their brains to primate brains at the single-cell level will provide new insights into the evolution of the primate brain.
