Questions tagged [mutations]

A change in an organism's genomic sequence.

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At what rate do chromosomal rearrangements occur?

How often do chromosomal rearrangements occur? I am interested about these kind of chromosomal rearrangements that are passed on to the descendants, i.e. germ line chromosomal rearrangements. The ...
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How does taking drugs speed up the development of drug resistant or viruses?

First, here is what I know: Some infectious illnesses, such as HIV or Hepatitis B, can be treated with the help of some drugs. The problem is that the virus sometimes undergoes mutations which grant ...
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Inter-codon mutations statistical analysis

I am looking for a statistical approach to inter-codon mutations. For example a 64*64 (64*63 actually) table, that contain the possibility of mutation from one codon to another codon (CCA to CAA or ...
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Are mature trees as susceptible to mutation from exposure to radiation as seedlings?

If a plant, say a ficus or a teak, as a sapling were exposed to radiation, and a tree of the same species were present at the same distance, which of the two would be more likely to mutate?
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Is there an existing database of mutation rates for mitochondrial loci?

I'm wondering if there exists a database of mutation rates (transitions and transversions) for both mitochondrial loci (such as cytochrome c oxidase subunit I (COI)). Due to the use of COI as a DNA ...
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Do exon deletions in C.elegans mutants necessarily result in nonsense mediated decay of the transcript?

I am trying to write out my research proposal about a project in C.elegans. There are multiple mutants of the factor that I want to study, each with different mutations. I know that a mutation that ...
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71 views

Is a novel homozygous SNV reasonable?

I'm doing some variant discovery in a human trio (affected child, non-affected mother, non-affected father) and I have found what looks like a homozygous novel mutation. All of the aligned reads in ...
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27 views

Can a regulator genes be more highly expressed when it has more places to bind?

I am doing some research on small cell lung cancer and, from what I have found, many tumors show high levels of ASCL1, which is a regulator for neuroendocrine cell differentiation. However, no papers ...
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55 views

Source for an upper bound in the number of genes based on mutation rates

So I've found myself referring in an answer once again to the idea that complexity (insofar as it's a quantity for which "number of genes" is a proxy) has an upper bound, limited by Muller's ratchet-...
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31 views

How to determine suitable Cysteine mutations?

In the lab, I'd like to generate a dimer of a protein via disulfide bonds. The interface between the two looks as follows: Now, in the interface, there isn't any cystein I could use to dimerize the ...
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61 views

Can ' functional' stress 'forced upon' a cell actually cause cell mutations when they divide and reproduce?

If a group of cells are forced to go beyond their regular biological parameters that they should be under given ' healthy' functioning and while existing in these stressed states some of the cells ...
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38 views

Can mutation rate be increased for instance by mutagenesis targeting the DNA polymerase?

I am studying a non-cultivable bacterium living in an insect host, and I would like to generate some random mutants of this bacteria while preserving the insect. I am wondering if one way to do so ...
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124 views

What is TILLING?

How does TILLING (Targeting Induced Local Lesions in Genomes) work? What is needed to perform a TILLING experiment, and what kind of information can we get out of it?
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When cancer is detectable, how many sub-clones are there at that stage?

I have read somewhere that cancer is detectable when the number of cells reaches $10^7 - 10^9$, which probably varies according to the specific tumor. At this early stage, what is the expected number ...
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42 views

Is it possible to buy a DNA sample with a specific mutation?

I would like to test a genotyping method (ARMS) on a specific human snp (heterozygous or homozygous ). Unfortunally, we do not have any dna samples with the mutation. Is it possible to buy somewhere a ...
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48 views

Is UV radiation more likely to cause mutations during mitosis?

According to Life: The Science of Biology (10th edition), UV radiation might cause the formation of pyrimidine dimers, which are the primary cause of skin cancer in humans. Are mutations more likely ...
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47 views

How diverse are the sperm cells of an individual male due to random mutations?

Due to the sheer number of sperm cells in an individual and the rate of mutations, are they likely to be incredibly diverse and encompass most of what we see across our species? For instance would it ...
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How to interpret figure on somatic mutation frequencies

In paper Mutational heterogeneity in cancer and the search for new cancer-associated genes, Figure 1 defines: Somatic mutation frequencies observed in exomes from 3,083 tumour–normal pairs. Each ...
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College Genetics: Xist vs. transposon

I'm taking introduction to genetics and I'm trying to understand the following question: Lets say there is a male cat with blue ears, a single gene mutation called BLU. We try to obtain pure bred ...
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464 views

Understanding PAM and BLOSUM matrices

This question might be silly but I need some clarification. I'm slightly confused about if there are multiple PAM and BLOSUM matrices? Is there a different matrix for each sequence? My ...
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41 views

Probabilities of mutations in telomeres?

Frankly I am a programmer, I've been looking at sites like NCBI and others, but couldn't find what I was looking for so if someone can help: Can you give me the probabilities of mutations in ...
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102 views

What is the upper limit of number of SNP based mutation in any protein?

I want to know if there is any upper limit of, how many point mutation a protein can have because of disease or nsSNPs? The general studies only focus mostly on a single or double site mutation of any ...
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168 views

Why is RAS undruggable?

Why can't mutated RAS get inactivated by GTPase? Why don't we have any inhibitors for RAS-GTP binding? Why is RAS undruggable? How can mutated RAS be inactivated? I had been researching on the topic ...
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What type of point mutation and chromosomal mutation cause Albinism in humans?

First of all, I know that OCA1 (Oculocutaneous Albinism Type 1) is autosomal recessive which means that both parents-who are unaffected-have to pass down one copy of a mutated gene in order to ...
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47 views

Will someone with a double mutation in the allosomes be normal?

Normally a female human has an X allosome from her father and an X allosome form her mother. What if an double mutation happened, which causes that someone has two X allosomes form her mother and no ...
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There are 6 classifications of CFTR mutations. Is a causal relationship to the sweat test known?

Cystic fibrosis (CF) is caused by mutations in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). The CFTR mutations are classified in 6 classes. The sweat test is ...
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Open Source Variant Caller comparable to GATK Haplotype Caller?

Is there a Variant Caller comparable algorithmically and in performance to GATK Haplotype Caller but Open Source Compliant (non-restrictive use)?
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Estimate mutation rate in UVC treated cells

I am wondering how to get a coarse estimate of the number of mutation I obtain doing UVC treatment on eukaryotic cells (microalgae) starting from information such as the survival rate, genome size, ...
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How do the CFTR alleles interact within an individual with Cystic Fibrosis when mutations of different classes are present?

So mutations in CF are classified by the severity of the impact on the production of the CFTR. But an individual may have two different CFTR mutations. I assume that the least severe mutation of the ...
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Radiation mutation breeding in plant seeds: practical aspects

I did read some seed irradiation papers and they all use Gy as unit of measure, however I have never seen seed weights reported. How did they calculate that, since Gy is J/kg? Differencies aside ...
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Is it possible to force Sars-Cov-2 virus to mutate?

The title may definitely be a stupid question since I have no background in biology. I would like to know if the coronaviruses or any other can be manipulated artificially so that they stop spreading ...
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Is there a known mutation of an insertion type that prevents being infected by a virus?

Recently there was big news about the mutation CCR5 delta 32, that prevents HIV from infecting white blood cells, that was a deletion type of a mutation. Do we know of an insertion type of mutation ...