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Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is that the gene codes for a product that is for example used by various cells, or has a signalling function on various targets. A classic example of pleiotropy is the human disease PKU (phenylketonuria). This disease can cause mental retardation and reduced hair and skin pigmentation, and can be caused by any of a large number of mutations in a single gene that codes for an enzyme (phenylalanine hydroxylase) that converts the amino acid phenylalanine to tyrosine, another amino acid. Depending on the mutation involved, this results in reduced or zero conversion of phenylalanine to tyrosine, and phenylalanine concentrations increase to toxic levels, causing damage at several locations in the body. PKU is totally benign if a diet free from phenylalanine is maintained.

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15y ago
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14y ago

yes-"Pleiotrophic alleles are responsible for the multiple symptoms associated with certain hereditary diseases, such as cystic fibrosis and sickle-cell disease".
Biology vol 1 Campbell 8th edition

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12y ago

Yes - sickle cell anaemia is caused by a mutation in the haemoglobin gene.

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13y ago

yes

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Q: Is sickle cell anemia an example of pleiotropy?
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