Epigenetics

Question 0

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)

Answer 0

Mutation in Dnmt3b gene

• facial dysmorphism, mental retardation, recurrent and prolonged infections, and variable immune deficiency with constant decrease of IgA.
• Immune def in association with centromere instability of chromosomes 1, 9, 16 and facial anomalies constitutes the ICF syndrome, a rare Autosomal Recessive

Question 1

Epigenetics

Answer 1

A change in the expression of a gene that changes the phenotype without permanently changing the gene itself (DNA sequence) but instead involves changes in chromatin structure.

Heritable

Gene repression continues after the cell division in the absence of the factor that facilitated the initial epigenetic event.

Epigenetic repression restricts the availability of genes for expression.