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
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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

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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
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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
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