Investigations from last time. Inbreeding and neutral evolution Genes, alleles and heterozygosity

Similar documents
Bottlenecks reduce genetic variation Genetic Drift

Inbreeding depression in corn. Inbreeding. Inbreeding depression in humans. Genotype frequencies without random mating. Example.

NON-RANDOM MATING AND INBREEDING

BIOL 502 Population Genetics Spring 2017

Population Genetics 3: Inbreeding

Decrease of Heterozygosity Under Inbreeding

Lecture 6: Inbreeding. September 10, 2012

CONGEN. Inbreeding vocabulary

Inbreeding and self-fertilization

Inbreeding and self-fertilization

Population Structure. Population Structure

Methods of Parentage Analysis in Natural Populations

PopGen3: Inbreeding in a finite population

Populations. Arindam RoyChoudhury. Department of Biostatistics, Columbia University, New York NY 10032, U.S.A.,

Chapter 2: Genes in Pedigrees

AFDAA 2012 WINTER MEETING Population Statistics Refresher Course - Lecture 3: Statistics of Kinship Analysis

Lecture 1: Introduction to pedigree analysis

BIOL Evolution. Lecture 8

Genetics. 7 th Grade Mrs. Boguslaw

DNA: Statistical Guidelines

Population Genetics. Joe Felsenstein. GENOME 453, Autumn Population Genetics p.1/70

Population Genetics. Joe Felsenstein. GENOME 453, Autumn Population Genetics p.1/74

Received December 28, 1964

Popstats Parentage Statistics Strength of Genetic Evidence In Parentage Testing

Coalescence. Outline History. History, Model, and Application. Coalescence. The Model. Application

9Consanguineous marriage and recessive

Statistical methods in genetic relatedness and pedigree analysis

Breeding a Royal Line - a cautionary tale

Genetic Effects of Consanguineous Marriage: Facts and Artifacts

Objective: Why? 4/6/2014. Outlines:

Pedigrees How do scientists trace hereditary diseases through a family history?

Spring 2013 Assignment Set #3 Pedigree Analysis. Set 3 Problems sorted by analytical and/or content type

Optimum contribution selection conserves genetic diversity better than random selection in small populations with overlapping generations

Inbreeding Using Genomics and How it Can Help. Dr. Flavio S. Schenkel CGIL- University of Guelph

Forward thinking: the predictive approach

Received October 29, 1920 TABLE OF CONTENTS

Kinship and Population Subdivision

Kinship/relatedness. David Balding Professor of Statistical Genetics University of Melbourne, and University College London.

1) Using the sightings data, determine who moved from one area to another and fill this data in on the data sheet.

Two-point linkage analysis using the LINKAGE/FASTLINK programs

The Pedigree. NOTE: there are no definite conclusions that can be made from a pedigree. However, there are more likely and less likely explanations

Primer on Human Pedigree Analysis:

ICMP DNA REPORTS GUIDE

Genealogical trees, coalescent theory, and the analysis of genetic polymorphisms

Conservation Genetics Inbreeding, Fluctuating Asymmetry, and Captive Breeding Exercise

Need a little help with the lab?

Exercise 8. Procedure. Observation

Genomic Variation of Inbreeding and Ancestry in the Remaining Two Isle Royale Wolves

Eastern Regional High School. 1 2 Aa Aa Aa Aa

NIH Public Access Author Manuscript Genet Res (Camb). Author manuscript; available in PMC 2011 April 4.

Developing Conclusions About Different Modes of Inheritance

D became evident that the most striking consequences of inbreeding were increases

Detection of Misspecified Relationships in Inbred and Outbred Pedigrees

Statistical Interpretation in Making DNA-based Identification of Mass Victims

1.4.1(Question should be rather: Another sibling of these two brothers) 25% % % (population risk of heterozygot*2/3*1/4)

Using Pedigrees to interpret Mode of Inheritance

ORIGINAL ARTICLE Purging deleterious mutations in conservation programmes: combining optimal contributions with inbred matings

INFERRING PURGING FROM PEDIGREE DATA

Development Team. Importance and Implications of Pedigree and Genealogy. Anthropology. Principal Investigator. Paper Coordinator.

How to Solve Linkage Map Problems

STUDENT LABORATORY PACKET

Nature Genetics: doi: /ng Supplementary Figure 1. Quality control of FALS discovery cohort.

ARTICLE Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome

Exercise 4 Exploring Population Change without Selection

Puzzling Pedigrees. Essential Question: How can pedigrees be used to study the inheritance of human traits?

Determining Relatedness from a Pedigree Diagram

Algorithms for Genetics: Basics of Wright Fisher Model and Coalescent Theory

Supporting Online Material for

Genetic Load in an Isolated Tribal Population of South India

Efficiency of the Use of Pedigree and Molecular Marker Information in Conservation Programs

BIOLOGY 1101 LAB 6: MICROEVOLUTION (NATURAL SELECTION AND GENETIC DRIFT)

University of Washington, TOPMed DCC July 2018

A hidden Markov model to estimate inbreeding from whole genome sequence data

CONDITIONS FOR EQUILIBRIUM

ville, VA Associate Editor: XXXXXXX Received on XXXXX; revised on XXXXX; accepted on XXXXX

U among relatives in inbred populations for the special case of no dominance or

Recent effective population size estimated from segments of identity by descent in the Lithuanian population

Genome-Wide Association Exercise - Data Quality Control

STAT 536: The Coalescent

Inbreeding and its effect on fitness traits in captive populations of North Persian leopard and Mhorr gazelle

Illumina GenomeStudio Analysis

Detecting inbreeding depression is difficult in captive endangered species

The effect of fast created inbreeding on litter size and body weights in mice

Genetic analysis of multiple sclerosis in Orkney

DNA Basics, Y DNA Marker Tables, Ancestral Trees and Mutation Graphs: Definitions, Concepts, Understanding

Population Structure and Genealogies

Linkage Analysis in Merlin. Meike Bartels Kate Morley Danielle Posthuma

COMMUNITY UNIT SCHOOL DISTRICT 200 Science Curriculum Philosophy

Analysis of geographically structured populations: Estimators based on coalescence

Edinburgh Research Explorer

Impact of inbreeding Managing a declining Holstein gene pool Dr. Filippo Miglior R&D Coordinator, CDN, Guelph, Canada

Pedigree Worksheet Name Period Date Interpreting a Human Pedigree Use the pedigree below to answer 1-5

Identification of the Hypothesized African Ancestry of the Wife of Pvt. Henry Windecker Using Genomic Testing of the Autosomes.

This is a repository copy of Context-dependent associations between heterozygosity and immune variation in a wild carnivore.

genetics paper pets By the end of the eighth grade, students are Learning with Introduction to inheritance by Valerie Raunig Finnerty

Gene coancestry in pedigrees and populations

Coalescence time distributions for hypothesis testing -Kapil Rajaraman 498BIN, HW# 2

Runs of homozygosity: windows into population history and trait architecture

2 The Wright-Fisher model and the neutral theory

Automated Discovery of Pedigrees and Their Structures in Collections of STR DNA Specimens Using a Link Discovery Tool

Transcription:

Investigations from last time. Heterozygous advantage: See what happens if you set initial allele frequency to or 0. What happens and why? Why are these scenario called unstable equilibria? Heterozygous disadvantage: What happens when you set the initial allele frequency to the value of t/(s+t). For example, using s aa = -0. = t, s ab = 0, s bb = -0.5 = s Why is this also an unstable equilibrium? Tutorial work due on Friday, 30 January by 4:30pm in Wolfson House office Inbreeding and neutral evolution k.dasmahapatra@ucl.ac.uk PRVIOUSLY: Deterministic evolution via selection TODAY: )Inbreeding: does not cause evolution by itself 2)Neutral evolution or genetic drift: a random process Inbreeding occurs if offspring are produced by parents who are related to each other. Genes, alleles and heterozygosity Inbreeding depression is the reduced fitness in offspring produced by incestuous matings. Individual A Individual B What causes inbreeding depression? Homozygous at gene A X P B Y P A Y P A Z F Homozygous at 4 genes Heterozygous at 5 genes D Heterozygous at 2 genes O N G G R S Q Q

What causes inbreeding depression Inbreeding results in increased homozygosity Unrelated parents AB CD What causes inbreeding depression? Inbreeding increases individual homozygosity Gametes A B C D Increased homozygosity reduces fitness through Offspring AC BC BD AA CA CD The degree of inbreeding of an individual is measured by its inbreeding coefficient, F. Inbreeding coefficient (F) = probability that two alleles in an individual are identical by descent F varies between 0 (non-inbred) to (completely inbred) The degree of inbreeding of an individual is measured by its inbreeding coefficient, F. Inbreeding coefficient (F) = probability that two alleles in an individual are identical by descent F varies between 0 (non-inbred) to (completely inbred) AC AA CA CD Alleles at a locus may be identical (by state), but this does not necessarily mean they are identical by descent. Selfing brothersister mating Alleles in this individual are identical by descent F= 2 2

Inbreeding in human populations Inbreeding in human populations Inbreeding in human populations Inbreeding coefficient (F) = probability that two alleles in an individual are identical by descent OR Decrease in probability of heterozygosity at loci compared to the average individual. Kind of incest brother-sister father-daughter uncle-niece first cousins F 0.25 0.25 0.25 0.0325 Only ~3% increase in risk above normal 3

Any advantages to inbreeding? Many organisms habitually inbreed Self-pollination in plants, esp. weeds Fig wasps Parasites ffect of inbreeding on populations Consider alleles, A, and a with freqs p,q and inbreeding (IBD) at rate F: Genotype AA Aa aa Frequency p 2 + Fpq 2pq( - F) q 2 + Fpq (For a derivation of this, see Chapter 6 in Freeman & Herron s volutionary Analysis) Genetic drift Genetic drift: the statistical drift of allele frequencies between generations due to random sampling effects deterministic vs. stochastic http://darwin.eeb.uconn.edu/simulations/drift.html Conclusions from simulations Genetic drift is random ffects of drift stronger in smaller populations Probability of fixation equals the initial allele frequency Drift reduces population heterozygosity Drift can modify effects of selection http://evolution.gs.washington.edu/popgen/popg.html 4

Loss of heterozygosity by drift Ht = H0 H t = heterozygosity after t generations H 0 = initial heterozygosity N = effective population size 2N N usually much smaller than actual population size t XAMPL OF GNTIC DRIFT Asian bramble (Rubus alceifolius), introduced on Indian Ocean islands. Genetic variation studied by means of DNA fingerprint technique: "Amplified Fragment Length Polymorphisms" - AFLP for short. fluctuating population size skewed sex ratio reproductive skew age structure Réunion Vietnam Native range (Vietnam, right), versus an introduced population (the island of Réunion, left) (from L. Amsellem et al. 2000. Mol. col. 9: 443-455. Northern elephant seal No variation at 43 allozyme loci Only 2 mtdna haplotypes (23 haplotypes in SS) ffective population size of 30 individuals for 20 years Take home points Inbreeding coefficient, F, measures how inbred an individual is. Measures proportional loss of heterozygosity compared to uninbred individuals. Inbreeding usually reduces fitness by unmasking deleterious recessive alleles. F also measures heterozygote deficit in a population resulting from inbreeding. Genetic drift is the random fluctuation in allele frequencies due to sampling. Drift is faster in smaller populations. Drift also reduces population heterozygosity at a rate of: Ht = H0 2N t 5

Things to do Paul & Spencer (2008) Its ok, we re not cousins by blood: the cousin marriage controversy in historical perspective. PLOS Biology: 6: 2627-2630. Futuyma (2005) volution. Chapter 9 (97-99, 20-202) and Chapter 0. Freeman & Herron (2004) volutionary Analysis. Chapter 6 (sections on Genetic drift and Nonrandom mating). Play with genetic drift simulation: http://darwin.eeb.uconn.edu/simulations/drift.html 6