Presentation on theme: "Non-Mendelian Genetics"— Presentation transcript:
1 Non-Mendelian Genetics Concepts Mendel Didn’t Think About
2 Alleles Alter Phenotypes in Different Ways Alternative forms of a gene are called alleles.Mutation is the source of alleles.The wild-type allele is the one that occurs most frequently in nature and is usually, but not always, dominant.
3 MutationsOften, a mutation causes the reduction or loss of the specific wild-type function.Such a case is called a loss of function mutation.Not being able to grow without the outside addition of an amino acid (adenine)If the loss is complete, the mutation has resulted in what is called a null allele.
4 Some mutations may enhance the function of the wild type product = gain of function mutation Silent mutation = Mutation where no phenotypic change is detected but there is a change in the DNA sequencePhenotypic traits may be influenced by more than one gene and the allelic forms of each gene involved.
5 Symbols for AllelesDominant alleles are usually indicated either by an italic uppercase letter (D) or by a an italic letter or group of letters followed by a superscript + (Wr+).Recessive alleles are usually indicated either by an italic lowercase letter (d) or by an italic letter or group of letters (Wr) without the +.If no dominance exists, italic uppercase letters and superscripts are used to denote alternative alleles (R1, R2; CW, CR).
6 Incomplete Dominance Neither allele is dominant Heterozygotes are a blend of homozygous phenotypes = no distinct expression of either alleleF2 phenotypic and genotypic ratios are 1:2:1Snapdragon/Four o’clock flower colorEggplant colorTay-Sachs disease
7 Animation showing incomplete dominance in F1 and F2 generations
8 Exercise to predict ratios in situations where there is incomplete dominance
9 Try theseIn a plant species, if the B allele (blue flowers) and the b allele (white flowers) are incompletely dominant (Bb is light blue), what offspring ratio is expected in a cross between a blue-flowered plant and a white-flowered plant?What would be the phenotypic ratio of the flowers produced by a cross between two light blue flowers?
10 Codominance Both alleles are equally dominant Heterozygotes express both alleles = distinct expression of the gene products of both alleles can be detectedMN blood groupF2 genotype and phenotype ratios are 1:2:1GenotypePhenotypeLMLMMLMLNMNLNLNN
12 Try TheseCattle can be red (RR = all red hairs), white (WW = all white hairs), or roan (RW = red & white hairs together.Predict the phenotypic ratios of offspring when a homozygous white cow is crossed with a roan bull.What should the genotypes & phenotypes for parent cattle be if a farmer wanted only cattle with red fur?A cross between a black cat & a tan cat produces a tabby pattern (black & tan fur together).What pattern of inheritance does this illustrate?What percent of kittens would have tan fur if a tabby cat is crossed with a black cat?
13 Multiple Alleles Genes can be characterized by more than 2 alleles Multiple alleles (>2) can be studied only in populations, because any individual carries only 2 alleles at a particular locus at one timeABO blood groupsEach individual is A, B, AB, or O phenotypePhenotype controlled by isoagglutinogen marker on RBCIA and IB alleles are dominant to the IO alleleIA and IB alleles are codominant to each other
14 The IA allele is responsible for an enzyme that can add the terminal sugar N-acetylgalactosamine (AcGalNH) to the H substance.The IB allele is responsible for a modified enzyme that cannot add N-acetylgalactosamine but instead can add a terminal galactose.The O phenotype results from an absence of either terminal sugar
17 Antibody Made in Plasma PhenotypePossible GenotypeAntigen on RBC surfaceAntibody Made in PlasmaCan Donate ToCan Receive FromAIAIO, IAIAAnti-BA, ABA, OBIBIO,IBIBAnti-AB, ABB, OABIAIBNeitherA, B, AB, OOIOIOBoth
18 Try TheseIf a male has blood type B and a female has blood type A, what are the possible blood types in the offspring?Is it possible for a child with Type O blood to be born to a mother who is type AB? Why or why not?A child is type AB. His biological mother is also type AB. What are the possible phenotypes of his biological father?
19 X-Linkage/ Sex Linked Genes are located on the X chromosome Drosophila eye color was one of the first examples of X-linkage describedDiscovered in 1910 by Thomas Hunt Morgan
21 X-Linked/Sex LinkageGenes present on the X chromosome exhibit unique patterns of inheritance due to the presence of only one X chromosome in males.Males are referred to as hemizygousX-linked disorders show up rarely in femalesX linked disorders show up in males whose mothers were carriers (heterozygotes)
22 Y-linked InheritanceY chromosome contains only genes although it is 50million base pairs in length.Most of Y is junk DNAGenes on Y are not essential for survivalPassed strictly from father to sonMost Y-linked traits are related to male sexual function and fertilityException = Hairy Ears
23 Pedigree AnalysisMethod of tracking a trait through generations within a family.Good method of tracking sex-linked traits as well as autosomal traits.
28 Autosomal Dominant Pedigree Autosomal dominant traits do not skip a generationAutosomal dominant traits do not show gender bias
29 Autosomal Recessive Pedigree Autosomal recessive traits skip a generationAutosomal recessive traits do not show gender bias
30 Lethal AllelesA loss of function mutation can sometimes be tolerated in the heterozygous state but may behave as a recessive lethal allele in the homozygous state, in which case homozygous recessive individuals will not survive.The allele responsible for a lethal effect when it is homozygous can also result in a distinctive mutant phenotype when it is heterozygous. Such an allele is behaving as a recessive lethal, but is dominant with respect to the phenotypeWill produce a 1:2 phenotypic and genotypic ratio
32 Lethal Allele Exception Huntington’s DiseaseInherited as an autosomal dominant lethal disorderPersons with Huntington’s will develop a progressive nerve disorder that causes involuntary muscle movement and loss of mental functionHuntington’s is usually expressed in adulthood and is always fatal
33 Try ThisA cross between two short-tailed mice results in offspring in the ratio of 2/3 short-tailed and 1/3 long-tailed. What is the best explanation for this result?
34 Modifying the Dihybrid Ratio Combinations of two gene pairs involving two modes of inheritance modify the 9:3:3:1 ratioMendel’s principle of independent assortment applies to situations in which two modes of inheritance occur simultaneously, provided that the genes controlling each character are not linked on the same chromosome.The probability of each phenotype arising in a cross can be determined by the forked-line method or by Punnett square assuming that the genes under consideration undergo independent assortment.
36 EpistasisOccurs when one gene masks the effect of another gene or when two gene pairs complement each other such that one dominant allele is required at each locus to express a certain phenotype.When studying a single characteristic, a ratio expressed in 16 parts (e.g., 3:6:3:4) suggests that epistasis is occurring.
37 Recessive EpistasisOccurs when the homozygous recessive genotype masks or suppresses expression of another geneThe Bombay phenotype for ABO blood groups
41 Complementary Gene Interaction A form of epistasisPresence of at least one dominant allele in each gene pair is essential to produce a particular phenotypeEach gene enhances the otherSweet Pea Flower Color
45 Pleiotropy Expression of a single gene has multiple phenotypic effects Very common among human genetic disordersMarfan SyndromePorphyria variegata
46 PenetrancePenetrance = probability that an individual having the dominant allele will show the associated phenotypeCompleteIncompletePolydactylyReported as a percentage
47 ExpressivityExpressivity = The degree to which an allele expresses the phenotype (i.e. the strength of the trait)Variable among individualsAffected by various factorsGenetic background (suppression and position of genes)TemperatureHimalayan rabbitsNutritionPKULactose IntoleranceOnset of gene expression may differ among individualsTaySachs, Huntingtons Disease
48 Expressivity -- Genomic Anticipation Trait seems to grow stronger and gain more expressivity from one generation to the nextEx: Schizophrenia, Huntington’s DiseaseWhy?During DNA replication repeated sections of the DNA within the gene are over-duplicated by accidentIn successive generations the gene gets longer
49 Genomic ImprintingGender of the parent who contributes the allele may affect how the trait is expressedEx: Solid Gold (sheep)Why?Unclear and seems to vary for different genesBecoming an issue with cloning