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Many hedgehog mutants have been recovered in Drosophila melanogaster which have a phenotype reminiscent of...

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Biology

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Many hedgehog mutants have been recovered in Drosophila melanogaster which have a phenotype reminiscent of the spiky animal The hedgehog gene is an important regulator of embryonic development and its human homolog is perturbed in some cancers A wide variety of mutations have been identified via sequencing of mutant alleles Five of these are described here 1 hhGW1 inversion of a portion of the coding region 2 hh 3C a point mutation changing a tryptophan codon in the middle of the coding region to a stop codon 3 hh Moonrat a 24 bp deletion in an enhancer regulating the expression of the gene causing it to be expressed in embryonic cells that normally do not express hedgehog 4 hhHL2 a two nucleotide deletion in an exon located in the middle of the coding region 5 hh k a point mutation changing amino acid 109 from proline to leucine Frameshift mutation Nonsense mutation Missense mutation The most likely of these 5 to be a leaky loss of function mutation Gain of function The most likely of these 5 to cause an anormal phenotype in heterozygotes with one copy of the mutant allele and one wild type allele Choose Choose Choose Choose Choose Choose

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