BIOL 1090 Lecture Notes - Lecture 6: Pleiotropy, Zygosity, Cinnabar

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Outside mendel"s garden, things are not so simple . Genes may and (cid:498)usually(cid:499) have more than 2 alleles: the most common allele is considered the (cid:498)wild type(cid:499) (cid:523)e. g. A+ or c+(cid:524) note: all other alleles are considered (cid:498)mutations(cid:499) considered to be a (cid:498)polymorphism(cid:499) (polymorphic alleles of that gene) Note: view effects in the slides: loss of function mutations are usually recessive because for most genes, one functional copy is enough to confer a normal (wild type) phenotype. Ex: microphthalmia protein (mitf) a transcription factor protein. Ex: effect of a null mutation on the protein mitf. We can see that one allele is responsible for 4 areas of the homozygous protein. The antennapedia mutation in drosophila is a (cid:498)dominant gain of function mutation(cid:499) in a regulatory region of the antp gene. )t"s expression is normally restricted regarding leg formation (segments) of the embryo (thorax) here it is also transcribed in the anterior head segment as shown on the picture.

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