p6 new

topic 5

Chromatinopathies

Chromatinopathies topics 1

1.      Many developmental syndromes arise from mutations in architectural or epigenetic regulators:

Chromatinopathies topics 2

2.      Cornelia de lange syndrome

Chromatinopathies 2.      Cornelia de lange syndrome topics

Cause      Examples

Chromatinopathies topics 3

3.      Rubinstein taybi syndrome

Chromatinopathies 3.      Rubinstein taybi syndrome topics

Cause      Examples

Chromatinopathies topics 4

4.      Kabuki syndrome

Chromatinopathies 4.      Kabuki syndrome topics

Cause

Chromatinopathies topics 5

5.      B cell lymphone

Chromatinopathies 5.      B cell lymphone topics

Cause      result

1.      Many developmental syndromes arise from

mutations in architectural or epigenetic regulators:

2.      Cornelia de lange syndrome Cause

Linked to mutations in Cohesin subunits

2.      Cornelia de lange syndrome Examples

NIPBL, SMC1A, and RAD21.

3.      Rubinstein taybi syndrome Cause

Caused by haploinsufficiency of the HATs

3.      Rubinstein taybi syndrome Examples

p300 or CBP

4.      Kabuki syndrome Cause

Associated with mutations in MLL4 (KMT2D) or UTX.

5.      B cell lymphone Cause

Frequently involves mutations in H1 coding genes,

5.      B cell lymphone result

disrupting the global histone landscape.