Genetic theory and analysis : finding meaning in a genome /: finding meaning in a genome. (2023)

• Record Type: Book
• Further Information: Note: Danny E. Miller, Angela L. Miller, R. Scott Hawley.
• Authors: Miller, Danny E; (Medical researcher), Miller, Angela L; Hawley, R. Scott
• Contents: Preface Introduction Chapter 1: Mutation This chapter describes different types of mutations and the various terminology used to describe mutations. 1.1 Types of Mutations Muller’s classification of mutants – Nullomorphs – Hypomorphs – Hypermorphs – Antimorphs – Neomorphs Modern mutant terminology – Loss-of-function mutants – Dominant mutants – Gain-of-function mutants – Separation-of-function mutants DNA-level terminology – Base-pair-substitution mutants – Base-pair insertions or deletions – Chromosomal aberrations 1.2 Dominance and recessivity The cellular meaning of dominance The cellular meaning of recessivity Difficulties in applying the terms dominant and recessive to sex-linked mutants The genetic utility of dominant and recessive mutants Summary Boxes Box 1.1 DNA-level terminology Box 1.2 Detecting gene expression by RNA-seq Box 1.3 De novo mutation References Chapter 2: Mutant Hunts This chapter describes why identifying new genetic mutants is useful, ways to create mutants, and how to screen for mutant phenotypes. 2.1 Why look for new mutants? Reason 1: To identify genes required for a specific biological process Reason 2: To isolate more mutations in a specific gene of interest Reason 3: To obtain mutants for a structure-function analysis Reason 4: To isolate mutations in a gene so far identified only by computational approaches 2.2 Mutagenesis and mutational mechanisms Method 1: Ionizing radiation Method 2: Chemical mutagens – Alkylating agents – Crosslinking agents Method 3: Transposons – Identifying where your transposon landed – Why not always screen with TEs? Method 4: Targeted gene disruption – RNA interference – CRISPR/Cas9 – TALENs So which mutagen should you use? 2.3 What phenotype should you screen (or select) for? 2.4 Actually getting started Your starting material Pilot screen What to keep? How many mutants is enough? – Estimating the number of genes not represented by mutants in your new collection Summary Boxes Box 2.1 A screen for embryonic lethal mutations in Drosophila Box 2.2 A screen for sex-linked lethal mutations in Drosophila – Objective – Basic stocks – The screen itself – A complication Box 2.3 The balancer chromosome Box 2.4 De novo genome and transcriptome assembly Box 2.5 Identifying new transposon insertion sites References Chapter 3: Complementation This chapter describes methods for determining whether mutants isolated in a genetic screen are novel. 3.1 The essence of the complementation test 3.2 Rules for using the complementation test The complementation test can be done only when both mutants are fully recessive The complementation test does not require that the two mutants have exactly the same phenotype There are cases where the phenotype of a compound heterozygote is more extreme than is that of either homozygote 3.3 How might the complementation test lie to you? Two mutations in the same gene complement each other A mutation in one gene silences expression of a nearby gene Mutations in regulatory elements 3.4 Second-site noncomplementation (nonallelic noncomplementation) Type 1 SSNC (poisonous interactions): the interaction is allele specific at both loci – An example of type 1 SSNC involving the alpha- and beta-tubulin genes in yeast – An example of type 1 SSNC involving the actin genes in yeast Type 2 SSNC (sequestration): the interaction is allele specific at one locus – An example of type 2 SSNC involving the tubulin genes in Drosophila – An example of type 2 SSNC in Drosophila that does not involve the tubulin genes – An example of type 2 SSNC in the nematode Caenorhabditis elegans Type 3 SSNC (combined haploinsufficiency): the interaction is allele independent at both loci – An example of type 3 SSNC involving two motor protein genes in flies Summary of SSNC in model organisms SSNC in humans (digenic inheritance) Pushing the limits: third-site noncomplementation 3.5 An extension of SSNC: dominant enhancers A successful screen for dominant enhancers Summary Boxes Box 3.1 A more rigorous definition of the complementation test Box 3.2 An example of using the complementation test in yeast Box 3.3 Transformation rescue is a variant of the complementation test Box 3.4 A method for determining whether a dominant mutation is an allele of a given gene Box 3.5 Pairing-dependent complementation: transvection Box 3.6 Synthetic lethality and genetic buffering References Chapter 4: Recombination This chapter provides a description of meiotic recombination and how it is used to map the genomic regions affected by novel mutations. 4.1 An introduction to meiosis A cytological description of meiosis A more detailed description of meiotic prophase 4.2 Crossing over and chiasmata 4.3 The classical analysis of recombination 4.4 Measuring the frequency of recombination The curious relationship between the frequency of recombination and chiasma frequency Map lengths and recombination frequency – The mapping function Tetrad analysis Statistical estimation of recombination frequencies – Two-point linkage analysis – What constitutes statistically significant evidence for linkage? – An example of LOD score analysis – Multipoint linkage analysis – Local mapping via haplotype analysis – The endgame The actual distribution of exchange events The centromere effect The effects of heterozygosity for aberration breakpoints on recombination Practicalities of mapping 4.5 The mechanism of recombination Gene conversion Early models of recombination – The Holliday model – The Meselson-Radding model The currently accepted mechanism of recombination: the double-strand break repair model Class I versus class II recombination events Summary Boxes Box 4.1 The molecular biology of synapsis Box 4.2 Do specific chromosomal sites mediate pairing? – The role of telomeres in early pairing – The role of centric heterochromatin in chromosome pairing – Specific pairing sites in C. elegans – Specific euchromatic pairing sites in Drosophila Box 4.3 Crossing over in compound-X chromosomes Box 4.4 Does any sister-chromatid exchange occur during meio
• Edition: Second edition
• Publisher Details: Hoboken : John Wiley & Sons, Inc
• Publication Date: 2023
• Extent: 1 online resource (304 pages)
• Subjects: 576.5; Genetics -- Research -- Methodology; Genetics -- Technique; Genetic recombination; Meiosis; Genomes
• Languages: English
• ISBNs: 9781394156283
• Notes: Note: Description based on CIP data; resource not viewed.
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