A change in an organism's genomic sequence.

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Genetic tests on S. cerevisiae to determine mutation locus on genes

I am studying the metabolism of galactose in the budding yeast Saccharomyces cerevisiae. After a random mutagenesis screen, several mutant strains were isolated that grow well in glucose but are ...
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1answer
83 views

What is the difference between Single Nucleotide Polymorphism (SNP), Mutation and Structural Variation(SV)?

This is a question which plagues many people and today I was wondering it myself while writing a grant. Indeed, I've seen many people use the terms interchangeably, but they are all very different ...
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Following DNA replication during S-phase of the cell-cycle, are all genomic regions subjected to the same stringent level of DNA-Repair?

To my (limited) understanding, there are 2 main ways that mutations can occur in DNA: Environmental (UV, etc) and mistakes during cell division. I was wondering if there is a mechanism that can give ...
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1answer
24 views

What does this mutation notation mean: MAP2K41161fs*12

I received a report that had a mutation notated as: "MAP2K41161fs*12". I'm used to seeing this sort of thing: BRAF(V600E) or BRAF(T1799TA). Can someone tell me how to interpret "MAP2K41161fs*12" ?? Is ...
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1answer
33 views

Genetic notations

Genetic testing revealed these two mutations (hypothetically): IVS11+6G>A and IVS11-4G>A Could you please explain every part of this notation, especially "+" and "-" signs.
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63 views

Is it possible to express a mutant gene only in a specific tissue?

Imagine that someone tries to develop a knockout mouse for a gene, but this result in lethality for the homozygous. Is it possible to express that mutant gene only in a specific tissue of interest to ...
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2answers
998 views

What has caused life to choose this unfathomably tiny subset of all possible proteins?

I wonder why life uses the particular proteins that it does, about 10^6 different proteins, I think? Evolution cannot explain it because the number of possible proteins is far far too large to ever ...
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2answers
106 views

Non Coding DNA and its effect on evolution

I had a discussion with a friend of mine; from his understanding, bacteria and other small organisms have higher amounts of "coding" DNA and, as such, are able to evolve much faster than organisms ...
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41 views

How can the phenotypic effects of a tumor suppressor mutation be silenced?

I've been reading a little about the "two-hit" hypothesis for tumor suppressor genes here, which mentions that some genes exhibiting haploinsufficiency are exceptions to the hypothesis. I've read ...
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1answer
36 views

Richard Goldschmidt's “systemic mutations”?

[TLDR] I dont understand the fault people had/have with Richard Goldscmidt's concept of systemic mutations [/TLDR] As a preface, I am a undergrad biology student, so sorry if this is a "Stupid ...
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1answer
35 views

What is the statistical relationship between radioactivity and mutation rate?

This question tries to narrow down the scope of that question. What is the statistical relationship between radioactivity and mutation rate? By how much would the mutation rate be lowered in a ...
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1answer
48 views

Do all kind of unicellular asexual reproductions let mutations happen, resulting in evolution?

I know about fission, an unicellular asexual reproduction method, where the mother cell splits into two daughter cells. Does this kind of asexual reproductions let mutations happen, leading to much ...
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128 views

Are there any mutagens that can undo the mutations they cause?

I was reading a section from my textbook about tautomeric shifts, and it seems to suggest that there are some mutagens that can be directly responsible for the phenomenon. The section is mainly ...
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1answer
33 views

Understanding conclusions that functional regions are under negative selection?

I am reading in notes for a comparative annotation lecture that : all DNA is subject to mutations most functional regions are under negative selection (ie., mutations are often deleterious) The ...
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1answer
81 views

Proving time travel

Consider this answer to an interesting question. It's not possible to prove completely that someone is the descendant of someone else, there's always a nonzero probability that the results are a ...
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1answer
27 views

What sort of assay could be used to identify mutants with mutator phenotype? [closed]

By mutator phenotype, I mean being more prone to mutations, for example due to mutations in genes involved in DNA repair. I was thinking about exposing the cells to agents that damage DNA (uv light, ...
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57 views

Why mutations in genes involved in general processes like DNA repair increase the risk of developing specific types of cancer?

For example, mutation in MHS2, which encodes a protein involved in the repair of mismatches that occur during DNA replication, dramatically increases the risk of developing colon cancer. (There are ...
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1answer
60 views

Why do haemophillic females $X^hX^h$ die before birth?

I just came across a statement in my book , while reading genetics, that haemophiliac females do not survive till birth (the reason not mentioned here why) . Before posting this question here I ...
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2answers
77 views

What are the major causes of mutations in DNA?

I know that point mutations can change the base sequence of a gene by altering a specific codon that codes for a particular amino acid. Are these mutations purely random events that occur when DNA is ...
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4answers
68 views

How does HIV mutate into other strains while keeping their virulent phenotype?

How does a virus like HIV mutate into so many strains, and yet all of them are harmful to our immune system? What gives this virus the ability to mutate so efficiently?
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1answer
49 views

Core architecture of the body encoding [closed]

First of all, I am not a biology guy; I am in Computer Science. But, I have a strong interest in all the mysteries of nature, from universe to human body. So, I want to ask a question related to ...
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1answer
43 views

What is the expected number of children that need to be born for every possible point mutation to occur once? [closed]

I'm reading The Perfect Health Diet, and in it the author says that the probability of a point mutation is (175/3*10^9) per new child. He then goes on to write: In the Paleolithic, with 100000 ...
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62 views

Where can I find mutation datasets for cancer (other than TCGA)?

My lab has been using TCGA data (somatic mutations and clinical data) to develop panels of genes and of mutations we expect to see in certain cancer populations. We'd like to validate our panels by ...
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1answer
38 views

The damage of cancer cells

I read about the molecular biology of cancer, and I have a mess on my head and a lot of questions.. . My primary question is- The damage of the cancer cells is in the dna sequence or in the gene ...
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1answer
102 views

Does increased cell turnover cause cancerous mutations?

If a certain set of cells or tissue are undergoing a lot of reproduction and repair cycles for some reason, does this inevitably lead to cancerous growths? If the mutation rate exceeds the normal ...
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2answers
224 views

How to do whole genome sequence alignment in R or Ruby/C++, any good language? [closed]

I need to perform tuberculosis mutation analysis. First step I need to do is to align sequences in fasta format against one reference file. i tried CLC genomics workstation --- it hangs on 60 000 ...
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19 views

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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1answer
66 views

Mutation Rate in Multicellular Eukaryotes

I always hear people saying that the mutation rate is around $10^{-6}$ or $10^{-7}$. I don't even know if this number is the mutation rate of genes or of a single nucleotides and I actually (almost) ...
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1answer
221 views

Why isn't the insertion of a single nucleotide destructive for DNA?

As far as I know proteins are built by sequentially reading triplets of nucleotides. But if at a certain point a nucleotide is inserted in the sequence, the following sequence of triplets is ...
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1answer
47 views

About the apoptosis mechanisms in a cell

The apoptosis mechanisms in a cell are like a type of 'self-destruction mechanism': is this correct? As with any type of complex system with various necessary functions, if it has a set of ...
4
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1answer
108 views

Drake's Law. What is the genome-wide mutation rate and what are the estimates?

Drake's rule Drake's rule states that the genome-wide mutation rate is more or less constant across all species — from E.coli to the house sparrow. Data From what I think being Drake's original ...
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0answers
34 views

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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1answer
37 views

Somatic Mutations in meristem tissue in plants

In angiosperm, in which layer of the meristem does a new mitotic mutation occurring has chance to be found in a pollen grain or in an ovule? I also welcome some insights about non-angiosperm plants.
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83 views

At what rate do chromosomal rearrangements occur?

How often does chromosomal rearrangements occur? i.e. what is the rate of chromosomal rearrangements? I am interested about these kind of chromosomal rearrangements that are passed on to the ...
3
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1answer
79 views

What is the difference between a DPY-10, DPY-11, and DPY-13?

My TA mentioned these three mutations of C. elegans since we started working with the worms but seems to skip over what the differences are...
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2answers
59 views

Are there known downsides to removing UV mutation hotspots to prevent some skin cancers (Genetic sunblock)?

Khavari et al. recently demonstrated that a significant fraction of one of the major forms of skin cancer (cutaneous squamous cell carcinomas) are associated with a mutated KNSTRN gene (a protein ...
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2answers
104 views

Is the mutation rate in organisms in general consistent over the genome?

Coming from computer science with an interest in genetic programming (a process emulating evolution) I'm curious about whether the rate of mutation is homogeneous across the whole genome, or if some ...
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2answers
52 views

Does chromosomal crossover result in a mutation?

Is chromosomal crossover considered a mutation? Would this be a large-scale mutation?
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131 views

(How) can a pink grasshopper exist?

I saw this foto on Reddit recently: Is this possible? How can a grasshopper become like this? Is this just natural genetic mutation?
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1answer
50 views

Percentage of mutations caused by radiation?

Consider a gamete in a typical human being. In the interest of being specific, let us say that we're talking about a typical ovum in a typical middle class woman living in a developed nation. What ...
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1answer
17 views

Are efflux pumps mutations or are they originally present in N. gonorrhoea?

I'll start by saying that I am no biologist. I am a math major trying to create a mathematical model for gonorrhea strain competition. My assignment is to create a model similar to a model that was ...
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2answers
193 views

What if a Point Mutation is seen in only half the coverage for its location?

I've been looking at some sequenced exomes and found an interesting point mutation that causes a Proline-to-Leucine amino acid change in the protein. This seems like it could have a big impact on the ...
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3answers
113 views

Which point mutations in proteins are OK, and which cause significant change?

I heard that some point mutations in proteins are OK, like from alanine to glycine (I'm not sure, it's just an example), some will change the protein significantly. I want to understand deeper but ...
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Are all mutagens carcinogens?

Not all carcinogens are mutagens. Alcohol and estrogen, for example, does not damage DNA. It's one of the assumptions of the Ames test that mutagenicity implies carcinogenicity, but is this always ...
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2answers
128 views

What are the naming conventions for mutations of proteins?

I have been reading about Maltose Binding Proteins. Mutant forms of the molecule seem to be named MalE_ where the _ represents a number, for example MalE36 or MalE50. Please can someone explain the ...
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3answers
366 views

Why cancer mutations do accumulate sequentially?

According to Knudson hypothesis, cancer mutations accumulate in order. Statistics says, that cancer probability increases as sixth order of age, which may mean six consequential steps to cancer. But, ...
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1answer
56 views

Is it firmly established, that mutations are sufficient for cancer?

It is evident for scientists, that all cancer cells have some mutated genes. Say mutations in general. But this evidence means necessary condition. But what about sufficient conditions? Is it ...
2
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1answer
66 views

Most human-like teratoma ever recorded?

I'm curious to learn about the most human teratoma ever recorded. By most human I mean the teratoma which most resembles the form of a human being. I suppose there are several criteria which would ...
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1answer
84 views

Population Genetics Question

Can someone please help with this question? Here is my working (just in case it is not clear: 1/300*1/30*1/2) but is this actually correct or do I need to multiply by 0.5 once again? I appreciate ...
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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?