Module 3 EPIGENETIC DISEASES

Question 1

An accumulation of genetic and epigenetic errors can transform a normal
cell into an invasive or metastatic tumor cell.

DNA methylation patterns

Answer 1

CANCER

Question 2

a gene that in certain circumstances can transform a cell into a tumor cell.

Answer 2

Oncogenes

Question 3

_________ can activate oncogenes and initiate chromosome instability

Answer 3

DNA hypomethylation

Question 4

initiates silencing of tumor suppressor genes

Answer 4

DNA hypermethylation

Question 5

• another process involved in eukaryotic gene regulation
• involves the silencing of one of the two alleles of a gene for a cell’s entire
  life span.
• affects a minority of genes

Answer 5

Imprinting

Question 6

display an ABNORMAL PHENOTYPE as a result of the absence (deletion) of the paternal (PWS) or maternal (AS) copy of a gene.

Answer 6

Prader-Willi syndrome and Angelman syndrome

Question 7

exhibit decreased DNA methyltransferase (DNMT) activity and hypomethylated DNA.

Abnormal DNA methylation

Answer 7

Lupus erythematosus

Question 8

are associated with:
1. DNA rearrangements - include the DNMT genes.
2. hypermethylation

Answer 8

Schizophrenia and mood disorders

Question 9

MECP2 gene encodes a protein that binds to methylated DNA; mutations
in this protein cause abnormal gene expression patterns within the first
year of life.

Answer 9

Rett Syndrome

Question 10

is characterized by severe developmental deficiencies due to
loss of ATRX, a protein involved in maintaining the condensed, inactive
state of DNA

Answer 10

ATR-X syndrome (-thalassemia/mental retardation syndrome, X-linked)

Question 11

results when the
D4Z4 region is hypomethylated, with a shortage of attached methyl
groups.

Answer 11

Facioscapulohumeral muscular dystrophy