Quizlet terms
1
,Lecture 1 - Genetics and evolution
Evolution:
● Darwin: The Origin of Species
○ backdrop in pro-creationism
● Modern organisms are successful adaptations of previous generations
● Natural selection → beneficial traits becoming more common based on:
○ variation(caused by mutation)
○ heritability(only the favorable are selected)
○ struggle for existence(only the favorable survives)
○ survival and reproductive rates
○ opposite: selective breeding
↪ has a purpose
↪ comparatively quick
● EG.: Bacteria gaining resistance for antibiotics → all of the above applies
● Survival of the fittest → those organisms that fit better into their environment are more
likely to survive
● Environment changes biology and behavior
Evidence for evolution:
● Biogeography → organisms with different features are indigenous to particular
environments
○ eg.: desert fox: large ears; arctic fox: small ears (heat regulation)
● Fossil records chart the time course of evolution
● Comparative structural similarities across species → common ancestor
● Similar in uterostages across species
○ eg.: gills in fish and human embryos
○ Haeckel: ontogeny replicates phylogeny
↪ During development every organism goes through every stage of its
evolutionary past
↪ ontogeny = individual development
↪ phylogeny = development from ‘lower’ to ‘higher’ species
● Species share common strands of genetic material
Homo sapiens:
● Is one species
● Y-chromosomal Adam → The most recent common ancestor from which all current people
are descended preliminary
● Mitochondrial Eve → The most recent woman from whom all people are descended
matrilineally through the transmission of mitochondrial DNA
○ Mitochondrial DNA always comes from the mother only
● Out of Africa hypothesis (Eurasia?)
● All humans are 99.9% genetically identical
● Human Genome Project:
○ Identification of the genetic makeup of humans
○ 20.000 genes (these carry information for protein synthesis) → < 2% of DNA
○ In 2003
2
,Genetics
● Each of our 10 trillion cells contain ~ 5 cm of DNA
● Karyotype → organized set of chromosomes
○ Humans: 46 chromosomes, 22 identical autosomes + 1 gonosome
● Genome → the whole genetic information of an organism
● Chromosome → strand of DNA around histones
● Telomere → region at the end of chromosomes, protects DNA during cell division
● Gene → part of a DNA with instructions to make proteins
● Allele → two alternative form of a gene, same place on chromosomes
● Gamete → reproductive cell containing only half of the genetic material needed to form a
human
● Qualitative traits
○ often influenced by a single gene
○ coded by a small number of genes
○ follow a simple pattern of Mendelian
inheritance
○ Often unaffected by environmental factors
○ can be described as a category
● Quantitative traits
○ coded by a larger number of genes
○ measured phenotype, varies widely between
individuals
○ creates a continuous distribution of
phenotypes
● DNA = DezoxiriBonucleinAcid
○ double helix
○ sugar-phosphate backbone + nucleotide bases
○ A=T
↪ A=U in RNA
↪
○ G☰C
○ DNA transcription → mRNA introns
stay in nucleus, exons go to cytoplasm translation →
proteins
○ Large proteins can split posttranslationally
What do proteins do:
● Building blocks of the body
● Become part of the cell membrane → transport channels, receptors
● Part of the cell structure → cytoskeleton, muscle contraction, connecting cells
● Transport oxygen → hemoglobin
● Create new proteins → ribosomes
● Products of the immune system
● Hormones and neurotransmitters
● Fuel for energy and heat production
● Metabolize chemical reactions → enzymes
3
, Genetic variation
● Single Nucleotide Polymorphism (SNP)
○ substitution of a single nucleotide baseat a specific position
○ relatively high frequency in the population
○ some have no negative effect
○ some may lead to disease (eg.: sickle cell disease = sarlósejtes vérszegénység; cancer
etc)
● Mutation
○ exchange of allelesduring crossing over → offspring with recombined genes
○ change in a single cell that is rare, random and often independent of the organism’s
needs
● Tandem repeat (/satellite DNA)
○ repeated duplication of a DNA sequence consisting of short, repeated base-pair
sequences
○ TATATATATATATATATATATA
○ length and exact sequence can vary
↪ microsatellite → 10-100 base pairs
↪ mini satellite → 2-4 base pairs
○ may affect the transcription of certain genes
● Deletions and insertions
○ eg.: Williams-Benreu syndrome → delete chromosome nr. 7
● Change in part of a chromosome
○ inversions → segments of chromosome turned by 180°
○ translocation → movement of segment to a nonhomologous chromosome
↪ balanced: equal parts exchanged
↪ unbalanced: unequal parts exchanged → missing/ extra genes
○ duplication → attachment of a broken piece of a homologous chromosome
↪ by unequal crossing over linked to certain leukemias
● Polyploidy → having more than two sets of chromosomes
● Monosomy → only one particular type of chromosome → eg.: Turner’s syndrome (XX)
● Trisomy = Down syndrome, extra chromosome at nr. 23
● Mosaicism → when not all cells in the body are genetically identical
● In case of a polygenetic characteristic disorder, Quantitative Trait Loci (QTL) describes how
many genes on chromosomes contibute to the quantitative trait
Epigenetics
● The study of heritable phenotype (expressed traits) changesthat do not involve alteration in
the DNA sequence
● = Phenotypical changes in response to the environment
● Can involve stress, nutrition, smoking, radiation
● eg.: under some circumstances, certain genes can be turned off → inactivation of X
chromosome in women
● Phenocopies → environmental factors give rise to disorders that are similar to those of genetic
origin
4