INDS 111 Lecture Notes - Lecture 21: X-Inactivation, Mitochondrial Disease, Indel

• School: McGill University
• Department: Interndisciplinary Studies
• Course: INDS 111
• Professor: Anne Andermann

Document Summary

3. 2 billion bps of dna per haploid nuclear genome: 20-30,000 protein coding genes, non-protein coding rnas, regulatory sequences, timing of expression-developmental, life stages, location of expression- housekeeping or tissue specific. 16,000 bps of mitochondrial dna per mitochondria. Epigenetic modifications, methyl groups on dna sequence itself: occurs in x-chromosome inactivation (lyonization) in females. Inherited from a parent, we each give half of genes to our kids in patient tissues (some tissues will have variation, others will not) Current estimates per person for rare variants in protein coding sequences (missense, Occur as a de novo" event in the germ cell, or occur later in the embryo, causing mosaicism. Designation: common variation ( 1% ) and rare variation ( 0. 5%) Current estimates per person for 50 kb insertions or deletions (copy number variants): Genes with 2 rare variants: 6-10/person nonsense, indel [insertion, deletion], splice site): 100-300/person. Individual genetic disorders are rare, but collectively they contribute significantly to disease burden.