Examples of Pleiotropy
- Sickle cell disease is an example of pleiotropy in humans. Sickle cell disease is caused by the formation of abnormally shaped red blood cells. Normal red blood cells have a biconcave, disc-like shape and contain massive amounts of haemoglobin. Haemoglobin aids red blood cells in binding to and transporting oxygen to the body’s cells and tissues. Sickle cell disease is caused by a mutation in the beta-globin gene. This mutation causes sickle-shaped red blood cells, which clump together and become stuck in blood vessels, obstructing normal blood flow. A single mutation in the beta-globin gene causes a variety of health problems and damages multiple organs, including the heart, brain, and lungs.
- Another disease caused by pleiotropy is phenylketonuria or PKU. PKU is caused by a mutation in the gene responsible for producing the enzyme phenylalanine hydroxylase. This enzyme degrades the amino acid phenylalanine, which is obtained from protein digestion. Without this enzyme, levels of the amino acid phenylalanine in the blood rise, causing neurological damage in infants. Infants with PKU disorder may experience intellectual disabilities, seizures, heart problems, and developmental delays.
Pleiotropy – An Overview and Related Disorders
‘PLEIOTROPY‘ term refers to the phenomenon in which a single locus affects two or more apparently unrelated phenotypic traits and is frequently identified as a single mutation affecting two or more wild-type traits. Pleiotropy comes from the Greek words pleio, which means “many,” and tropic, which means “affecting.” Pleiotropic genes are those that affect multiple, seemingly unrelated phenotypes. Pleiotropy should not be confused with polygenic traits, which occur when multiple genes interact to produce a single phenotype. Let’s have a glance at the topic of pleiotropy in detail.
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