Structure and Function of Human Genome Flashcards
1
Q
Structure of a chromosome?
Function of p arm?
Function of Telomere?
What is Telomerase? What can it cause if present in the wrong cells?
4 types of chromosomes (where is centromere located)?
How chromosomes are identified?
A
- p arm is short. q arm is long. Telomere on both ends, with Centromere along it.
- Codes for rRNA
- Protect ends of chromosome
- Repairs telomeres in certain cells. Can cause cancer.
- Metacentric (middle), Sub-metacentric (just above middle), Acrocentric (near end), Telocentric (at end)
- Size, Banding pattern, Centromere position
2
Q
What is Chromatin wrapped around?
What is a Nucleosome?
What are the 2 types of Chromatin?
A
- Histones
- Octamer of histones; basic unit of DNA packaging
- Euchromatin; extended state, dispersed through nucleus FOR GENE EXPRESSION
Heterochromatin; condensed state, tightly wound so there’s NO GENE EXPRESSION
3
Q
Definition of Genome?
Components of a gene? Function?
What is an Exome?
What is an Epigenome?
How does an epigenome affect gene activity?
A
- All the genetic information; includes coding, non-coding, mitochondrial DNA
- Introns; non-coding
- Exons; CODING
- UTR; control protein synthesis
- Promotor region; regulate transcription (5’end)
- Protein coding parts of genome (ALL EXONS IN THE GENOME)
- Compounds that attach to DNA/Histones and affect gene activity
- Alter chromatin structure, Recruit histone modifiers, Subdue transcription
4
Q
What controls gene expression?
Ways in which gene expression varies?
Effect of failing to regulate gene expression?
A
- DNA sequence, Epigenome
- • In time (Temporal); development and in response to hormone/infection
• Spatial; different tissues/cells - Metabolic disease, Cancer, Metastasis, Congenital disorders