Missense mutation

2007). The mutations render the transcriptional repressor dysfunctional, and therefore MECP2 is not able to ‘turn off’ genes that are normally turned off during development. This leads to an imbalance in gene expression in the brain, which can have vast neuron impacts and can reduce overall neuronal activity (Chahrour, M., Huda, Z. 2007). Specifically, a study found a decrease in the functional units of the brain, reduced dendrite branching, and shorted and sparse dendrites in the frontal cortex (Neul et al. 2010). Dendrites extend from neurons and their shape is important in processing information in the brain (Harris, K., Spacek, J. 2016). Therefore, it is hypothesized that a reduction in dendrite branching, abundance, and length has a negative impact on neurodevelopment. In addition, since MECP2 increases in abundance post-natal, its dysfunction has the largest impact on post-natal development and can lead to neurodevelopmental abnormalities (Neul et al. 2010). In sum, MECP2 mutations have the largest impact on proper brain development. Inheritance of Mutations Rett Syndrome is almost exclusively seen within females. Researchers found the syndrome to be X-linked dominant with lethality in males (Amir et al. 1999). The MECP2 gene is found on the X chromosome, however it is rarely inherited from parent to offspring. This is because the MECP2 mutations are spontaneous and generally occur in the sex cells, so only the offspring with the random mutation is affected (Amir…

Gene Mutations Gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations are affected by the change in the DNA sequence. There can be many different types of mutations. (Department of Genetics, Stanford School of Medicine, Para I) Some examples are point mutations, missense mutation, nonsense mutation, frame shift mutation, silent mutation, deletion, insertion, and duplication. (US National Library of Medicine) These mutations can either occur naturally or actually…

DNA mutations are in other words DNA changes. Any changes in DNA can be from spontaneous mutation, in order to adapt to the continuous changing environment, or induced mutation, which it is caused from dangerous exposures such as to carcinogens or radiation. Moreover, three main steps a DNA chain goes through to build proteins are, DNA to mRNA (messenger deoxyribonucleic acid), and then the end result is protein. Furthermore, DNA changes, in which can occur in a single or multiple nucleotides on…

p53 plays a critical role in regulating cell-cycle progression and in maintaining genomic integrity when cells sustain DNA damage. The p53 protein functions as a nuclear transcription factor that regulates expression of various genes encoding proteins involved in cell-cycle checkpoints (e.g., p21WAF1/CIP1), apoptosis, and DNA repair .Since its important role in many cellular processes, p53 is prone to mutations and is mutated in 80–90% of NSCLCs and in 50% of SCLCs [Sekido et al., 2001]. Most…

The four forces of evolution are mutation, gene flow, genetic drift, and natural selection. Mutation is when a change happens during replication of DNA. It is when the copy of the original DNA is not replicated completely correctly. There are multiple types of mutation including substitution, deletion, duplication, insertion, nonsense mutations, missense mutation, frameshift, and repeat expansion. Another force of evolution, gene flow, also called migration is exactly that.…

to be permitted and for mutations to be fixed easily after an enzyme latches itself onto a specific location in the genome with the assistance of a guide RNA molecule. After a RNA molecule discovers a DNA sequence that fits the coding of the guide RNA, it proceeds to separate both of the double helix 's strands at the specific site. In response, the cells attempt to heal the broken area by either adding or removing DNA cells know as bases, which…

have been two inheritance patterns identified in KFS autosomal dominant and autosomal recessive. In addition, there are also cases identified as sporadic in nature. Molecular Genetics In an effort to avoid delving into an embryology analysis, Klippel-Feil Syndrome has been linked to failure of mesodermal somite division, which typically occurs during weeks three and eight gestation (Lang, 2009). Researchers believe this anomaly is related to an alteration or mutation of the PAX 1 gene; this gene…

for making proteins that are involved in repairing damaged DNA. XPB has the same type of mutation as XPA however it is an essential subunit of a 9 unit general transcription factor IIH (TFIIH) complex. The TFIIH complex helps repair damaged DNA therefore mutation in XPB means the TFIIH complex doesn’t form properly hence cannot do its job. In XPC there is a single base substitution on the third chromosome this causes a missense mutation which produces inactivated XPC protein this is crucial…

Gene mutation is a permanent alteration in the DNA nucleotide sequence, such that the sequence is different from what is commonly found. Mutations range in size; they can affect anywhere from a single base pair, to a large segment of a chromosome. Gene mutations can be categorized in two major ways, hereditary and acquired or somatic mutation. Hereditary mutations are mutations inherited from a parent. These mutations are present in virtually every cell of the body, and are present throughout…

Mutagenic Capabilities of Ethyl-Methanesulfonate Biology Lab 10501 November 30th, 2016 Lab Group: Drew Garza, Brock Morgan, Christian Chen, Daniel Lee. ABSTRACT INTRODUCTION Mutations are permanent changes in DNA sequence that makes up a certain gene that are caused by environmental factors or when DNA is copied in the replication phase. Mutations can range in various sizes and can affect any part of the DNA sequence. In our lab we dealt with Ethyl…