What is a mutation? Mutation occurs when a DNA gene is damaged or changed in a way that alters the genetic message. Mutations can be either harmful or helpful. It can be harmful because of genetic disorders or cancers, but it can be helpful mutations that can sickle cell a person with his gene less likely to have malaria. Mutations can cause disorders that can affect a person’s lifestyle. Mutations can be inherited or developed spontaneously. An example of this is a disorder called Swyer syndrome caused by a mutation in the DHH gene inherited in a recessive pattern. People have 46 chromosomes in each cell. Usually females have two xx chromosomes and men usually have xy chromosomes. Swyer syndrome individuals have one x chromosome and y chromosome in each cell. The pattern is usually found in boys. Swyer syndrome usually only affects sexual development. Depending on the cause it can affect health conditions such as nerve problems. Swyer syndrome is pretty rare only about 1 in 80,000 people. The mutation they find in Swyer syndrome is a mutation in the SRY gene which seen in about 15% of individuals with this syndrome. Swyer syndrome prevents the production sex determining Y protein. If a fetus does not produce a functional Y protein testes will not develop and a uterus and fallopian tubes will instead even though the person has a male karyotype. Swyer syndrome can happen through another mutation. A mutation in the MAP3K1 this mutation accounts for 18% of people. The MAP3K1 makes the protein that regulates the signaling pathways. Since the signaling pathway affects the process of the sex at birth. The mutation decreases signaling that leads to the male sexual difference and increases the signal to the female sexual difference. A third mutation was found in people with this syndrome. A mutation in the DHH and NR5A1, the DHH is the provider for making the proteins. The NR5A1 provides instructions for producing steroidogenic factor 1. Mutations in the DHH and NR5A1 affects sexual differentiation it stops male karyotype from developing testes same thing like a mutation in the SRY. The person will develop a uterus and fallopian tube. Swyer syndrome isn’t the only syndrome that deals with genes and the effect of chromosomes. Syndromes like the XXY or the Triple-X syndrome these have to do with a new addition of a chromosome. All of these different syndromes are not seen to be inherited. The key cause of this syndrome is a new mutation this is different from being a inherited mutation. Mutation like Swyer syndrome example of how different mutations can affect your genes. A mutation that only affected the Y protein and that mutations can be caused by more than one thing. Mutations can hinder different things for plants and animals. If you want more information about different syndrome go on the Genetics home reference page.
- “Definition of Hereditary Mutation.” MedicineNet, www.medicinenet.com/script/main/art.asp?articlekey=3723.
- “Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/.
- Learning, Lumen. “Biology for Majors I.” Lumen Learning, Lumen Learning, courses.lumenlearning.com/wm-biology1/chapter/reading-what-is-a-mutation/.