More than 500 human genetic diseases are caused by haploinsuathelency, a heterorygotic condition in which the wild-type allele cainot produce enough normal protein to make up for the loss of functional protein expression from the mutated allele to get a normal phenotype. What micht be an approach for treating haploinsufficiency disorders in non-human disease models? Choose one: A polymeras chasin reaction of the widtypeaskec. DNA sequence to amplify the gene B. SRNA targeted to the mutated gere sequence to reduce mutated mRNA levels C. Cre recombinase conditional knockout of the mutated gene D. CRASPR targeting wild-type gene with inactive Cas9fused to a transcription activator
Added by Dana S.
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In haploinsufficiency disorders, one allele of a gene is mutated and does not produce a functional protein, while the other allele (wild-type) does not produce enough protein to compensate for the loss. This results in a phenotype that is not normal. Show more…
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Mouse models for human genetic diseases are potentially powerful tools to help geneticists understand the cause of the aberrant phenotypes and develop new therapeutic measures. However, such mice are not always as useful to investigators as it might seem at first glance. Suppose that you have a mouse knockout model for a human disease caused by homozygosity for a null allele of a gene. Discuss how the following situations might complicate investigations of the human disease based on this mouse model. a. Mice have a shorter life span than humans. b. Mice homozygous for certain knockout mutations die in utero. c. Mouse genomes may have additional copies of the gene whose mutation causes the disease in humans. d. Mice from different inbred lines homozygous for the same gene knockout vary in the penetrance and expressivity of the phenotype. e. Manipulations to create the knockout mouse, such as the presence of a drug resistance gene that allows the selection of cells containing the knockout (see Fig. 18.9 ), can disrupt not only the targeted gene, but also the expression of other, nearby genes.
Adi S.
Another disease caused by a mutation in a single gene is Huntington's disease (HD), an autosomal dominant condition. It is caused by mutations in a gene required for normal nerve cell function. The mutations cause abnormal proteins to be produced, which "stick" together and accumulate in nerve cells, eventually interfering with normal cell operations. Suggest two ways you could treat the disease by targeting the translation step for the HD protein and justify why each approach might be effective.
we study a protein and perform a genetic knockout (knock out -KO) in a mouse for exon 2 of the gene encoding it (exon 2 contains the first ATG in the mrna). we isolate cells that lack the gene (KO) as well as wild-type cells (WT) that do not carry the gene. We isolate RNA, make cDNA and perform large-scale cDNA sequencing (RNA-seq experiment). Comparing the RNA molecules expressed in KO cells in relation to WT cells, we find that there are genes that do not change their expression, genes that increase their expression and finally genes that decrease their expression. How do you explain the results?
Dennis H.
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