mtDNA and Y-DNA Lecture Notes

Flashcards covering the genetic evidence for endosymbiotic theory, human mtDNA variation, and the definitions of genotype, haplotype, and haplogroup.

mtDNA Genome Characteristics

The mitochondrial DNA is small, compact, and circular, possessing almost no nonfunctional DNA, which are features shared with bacterial genomes.

Rickettsia

An intracellular pathogen and kind of bacteria to which mitochondrial genes are most phylogenetically similar.

N-formyl methionine

The initiator tRNA and amino acid used by both mitochondria and bacteria, distinguishing them from eukaryotes which use regular methionine.

Mitochondrial Ribosome

A type of ribosome found within mitochondria that is categorized as the bacterial type rather than the eukaryotic type.

Archaea Genetic Features

Characteristics including linear chromosomes, DNA wrapped in histones, multiple RNA polymerases, and genes that may have introns and splicing.

rCRS

Standing for the revised Cambridge reference sequence, it is the standard mtDNA sequence against which individual SNP variants are compared.

D-loop

The specific region in the human mtDNA genome where the small number of SNPs that constitute human variation are located.

mtDNA Genome Size

The human mitochondrial genome is over $16\,kb$ long, though it can be communicated using less than 100 characters by highlighting D-loop SNPs relative to the rCRS.

Forensic mtDNA Variation

In mitochondrial DNA, SNPs are the only form of variation among the population because mtDNA lacks noncoding, repetitive DNA such as STRs.

Genotype

The two specific alleles that an individual has at a specific locus or gene.

Haplotype

The specific allele that a person has at a haploid locus, such as the mitochondrial genome or the X and Y chromosomes in males.

Haplogroup

A group of haplotypes that comprise a specific biogeographical ancestry, such as an ancient migratory people or a modern ethnic group.