My reading about MECP2 suggests that certain mutations of it cause Rett syndrome. However, further reading suggests that mutations in it also occur in individuals with Angelman syndrome, neonatal encephalopathy, certain instances of autism, and some cases of lupus.
Where can I find out which mutations are linked with which domain of the protein (because there appear to be a few different domains, though not too many, to choose from), and why these mutations produce what they do?
There is still a lot to learn about the MECP2 gene. It regulates at least 2500 other genes. I don't know of anyplace that lists all of the conditions in which MECP2 MECP2 plays a role. The two primary ones are Rett syndrome and MECP2 Duplication Syndrome. Rett syndrome can be caused by mutations at several different locations or deletions of the entire gene that results in underactivity of the gene. It affects mostly girls (because boys would not survive with it due to having only one X chromosome so if the gene is damaged there is no second copy to partially compensate. MECP2 Duplication Syndrome occurs when there is and extra copy (duplication or triplication) of the gene resulting in overactivity of the gene. It affects mostly boys, because in most cases girls can carry an extra copy on one X chromosme but since one X is always inactivated, they can selectively inactivate the copies with the duplication. Since boys only have one X, they can not compensate. MECP2 appears to play a lesser role in a number of other disorders and the list is growing longer but these two are the main ones. For example, CDLK5 gene is a target to MECP2 in the brain, if it is damaged the effects on the brain are very similar to MECP2 disorders because MECP2 can't do it's job. FOXG1 is another gene that interacts with MECP2 and mutations in FOXG1 can produce a variant of RETT syndrome
Hope these links would help you:
http://mecp2.chw.edu.au/cgi-bin/mecp2/views/basic.cgi?form=basic
http://mecp2.chw.edu.au/cgi-bin/mecp2/search/printGraph.cgi#ALL
There is still a lot to learn about the MECP2 gene. It regulates at least 2500 other genes. I don't know of anyplace that lists all of the conditions in which MECP2 MECP2 plays a role. The two primary ones are Rett syndrome and MECP2 Duplication Syndrome. Rett syndrome can be caused by mutations at several different locations or deletions of the entire gene that results in underactivity of the gene. It affects mostly girls (because boys would not survive with it due to having only one X chromosome so if the gene is damaged there is no second copy to partially compensate. MECP2 Duplication Syndrome occurs when there is and extra copy (duplication or triplication) of the gene resulting in overactivity of the gene. It affects mostly boys, because in most cases girls can carry an extra copy on one X chromosme but since one X is always inactivated, they can selectively inactivate the copies with the duplication. Since boys only have one X, they can not compensate. MECP2 appears to play a lesser role in a number of other disorders and the list is growing longer but these two are the main ones. For example, CDLK5 gene is a target to MECP2 in the brain, if it is damaged the effects on the brain are very similar to MECP2 disorders because MECP2 can't do it's job. FOXG1 is another gene that interacts with MECP2 and mutations in FOXG1 can produce a variant of RETT syndrome
There are at least seven genotypes described for mutations in the MECP2 gene, ranged from severe neonatal encephalopathy to autism spectrum disorder, as well as the classic Rett syndrome. I recommend you look at OMIM for the latest updates.
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