Epigenetics

Question 1

Rhett Syndrome- symptoms and mechanism

Answer 1

Neurological disorder
X linked dominant- MECP2 gene mutation. MECP2, most abundantly expressed in CNS, is not regulated, and will inappropriately express proteins (damaging CNS)

Question 2

genomic imprinting

Answer 2

When genes are not demethylated between the gamete and blastocyst stage and the methylation persists. If there is a deletion in the non-methylated gene no expression will occur.

Question 3

Prader-Willi Syndrome symptoms, cause

Answer 3

Mental retardation, hyperplasia, loss of full feeling->obesity.

Maternal allele has methylation, paternal allele is deleted. No SNRPN expression

Question 4

Angelman Syndrome

Answer 4

Seizures, mental retardation.

Paternal allele imprinted by methylation. Maternal allele is deleted. No UBE3A expression.

Question 5

Methylation of Histones effect

Answer 5

Transcription on heterochromatin is inactivated.

Question 6

Acetylation of Histones effect

Answer 6

Loosens euchromatin and allows transcription to occur.