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Mendel’s work and the genes. Eörs Szathmáry (Alpbach 2005). Collegium Budapest. Eötvös University Budapest. Concepts of inheritance. J.B.S. Haldane: „I inherited my watch from my father” „I inherited my nose from father” Geneticists are interested in the latter
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Mendel’s work and the genes Eörs Szathmáry (Alpbach 2005) Collegium Budapest Eötvös University Budapest
Concepts of inheritance • J.B.S. Haldane: • „I inherited my watch from my father” • „I inherited my nose from father” • Geneticists are interested in the latter • „Genetics deals with the question why organisms that look almost alike are nevertheless different, in a hereditary fashion”
Mendelian inheritance • Gametes are always clean! • Stoichiometric paradigm • Probabilistic combinations
Segregation of dominant mutation ½ of the offsping in F2 generation shows dominant phenotype
Segregation of recessive mutation Recessive phenotype appears in 1:3 proportion in generation F2
Two traits together • A concrete count of two segregating traits
Two segregating traits • No linkage • Punnett’s table • Independent combination
Mendel was extremely lucky that his traits are on different chromosomes • Some deviations from Mendel’s rules could not be reconciled in any other way than assuming that they are linked together as “beads on a string” • Morgan has made crosses to analyse linkage • The concept of recombination was later linked to the cytological observation of meiosis (reductive cell division)
Whether recombination really occurs depends on the way the Holliday junction is resolved
Whereas genetic recombination can generate variation, its evolutionary role is unclear • Genetic recombination can generate good chromosomes out of partially bad ones • But, unfortunately, the opposite is also true • Something must generate an asymmetry because recombination is “costly”
Genes tend to specify the structure of a protein • Nucleotides sequence of DNA specifies the amino acid sequence of proteins • Proteins can be structural components or enyzmes • “Information: the precise determination of sequence” (Francis Crick)
A vast variety of gene products are generated by alternative splicing