Chapter 3 Epigenetics and Disease Flashcards
What is Epigenetic
It is the study of gene expression and how phenotypes can be turned on (expressed) or turned off (not expressed) without DNA mutation or changes in the nucleotide sequence
DNA Methylation
Occurs through there attachment of a methyl group to a cytosine. Substantial DNA methylation essentially insulate the DNA. and silences the genes by blocking access to the DNA by the transcription factors
What is histone modification
The removal of an acetyl group from the histone protein which results in a change in structure of the protein
What can DNA methylation and histone hypoacetylation due to goether
Disrupt transcription of the gene and the production of the encoded protein
Noncoding RNAs
They sop up complementary RNAs and inhibit their function
Prader willi Syndromw Cuase
Deltion of base pairs on the long arm of a chromosome
Prader William signs and symptoms
Small hands and feet obesity intellectual disability and hypogonadism
Cause of Angelman syndrom
When the deletion is inherited from the mother occurs at the 4mb
Signs and symptoms of angel man syndrome
Sever intellectual disability seizures and ataxic gait
Beckwith-wiedemann syndrome
An overgrowth condition caused by the overactivity of IGF2 (Insulin like growth factor 2)
What is beckman wiedmann syndromee signs and symptoms
Large for gestation age hypoglycaemia at birth a large rouge creases on earlobe omphalocele and have increased risk for developing wills tumour or hpatoblastoma
Russell silver syndrome s&s
Delayed growth proprialnate short statur, leg length discrepancy and a small triangular face
Russell-silver syndrome
Down regulation of IGF 2
What are histones
Proteins that support DNA and organizes it in the nucleus of the cell, also proteins that DNA wraps around
What is transcription
Process of making mRNA from a section of DNA
