First, identify (name) the protein BCOR gene encodes. Then, write a few sentence
ID: 261104 • Letter: F
Question
First, identify (name) the protein BCOR gene encodes. Then, write a few sentences for each part below.
a.Describe the protein's function in normal cellular processes. (for example, is it an enzyme? if so, what enzyme does it catalyze? is it a transcription factor? is it a hormone? etc)
b.Explain what happens when there is a mutant allele, instead of the normal one. You should have identified an allele or polymorphic variant of your gene in assignment#2 that produces an abnormal protein.
c.Make it clear how the mutant allele --> makes cells produce an abnormal protein --> how this causes the phenotype (trait) you chose to research. Include your exact source(s), the webpage(s) showing info about your gene that you used to answer the question.
Explanation / Answer
BCOR gene encodes a protein, BCL6 co-repressor.
a. BCOR gene is located in X-chromosome and encodes a protein BCL6 which is a transcription factor. Co-repressor proteins bind to DNA in assistance with other proteins. In this case, it binds to the DNA by combining with a protein which is expressed by gene BCL6. It plays an important role in the function and survival of germinal center B-cells.
b. Mutant allele produces protein which is abnormal and hence its functions are altered which leads to disease state. In case of BCOR gene, various type of mutation in it leads to disease called Oculofaciocardiodental syndrome.
c. Mutant allele cannot produce normal protein due to change in sequence of gene because of mutation. This change in sequence leads to truncated protein which cannot fold into its native form correctly. Absence of native state of protein leads to abnormality in its functionality.
For example, in case of BCOR several types of mutation have been found such as frameshift, deletion and nonsense mutations. These mutations leads to abnormal production of protein. However, it could effectively bind to BCL6 and repress the transcription effectively. But its other functions were altered such as interactions with other transcriptional factors. Mutation in this gene produced abnormalities in eye, skeleton and nervous system which indicates that BCOR has functions early in embryogenesis.
Source: Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
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