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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
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The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an observed value. In the context of genetics, it enables us to either accept or reject a hypothesis, based on how much the observed values deviate from the expected values.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also...
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Related Experiment Video

Updated: Mar 8, 2026

Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis
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Uncovering hidden variation in polyploid wheat.

Ksenia V Krasileva1,2,3, Hans A Vasquez-Gross1, Tyson Howell1

  • 1Department of Plant Sciences, University of California, Davis, CA 95616.

Proceedings of the National Academy of Sciences of the United States of America
|January 19, 2017
PubMed
Summary
This summary is machine-generated.

Researchers cataloged over 10 million mutations in wheat, creating a valuable resource for understanding gene function in polyploid crops. This extensive mutation library aids in uncovering hidden genetic variations in wheat and other polyploid species.

Keywords:
exome capturemutationspolyploidyreverse geneticswheat

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Area of Science:

  • Plant genetics
  • Crop science
  • Genomics

Background:

  • Polyploid crops often lack comprehensive reverse genetic resources needed for gene function studies.
  • High sequence identity in polyploid genomes, like wheat, masks recessive allele effects.
  • Wheat's tolerance to induced mutations was exploited to generate extensive genetic variation.

Purpose of the Study:

  • To create and sequence a large collection of mutant lines in polyploid wheat (tetraploid and hexaploid).
  • To catalog millions of mutations within the protein-coding regions of wheat genes.
  • To enable the identification of previously hidden genetic variations in polyploid crops.

Main Methods:

  • Generated and sequenced 2,735 mutant lines of tetraploid and hexaploid wheat.
  • Cataloged over 10 million mutations in protein-coding regions.
  • Analyzed mutation density and identified missense and truncation alleles per gene.

Main Results:

  • Detected an average of 2,705 (tetraploid) and 5,351 (hexaploid) mutations per line.
  • Achieved mutation densities of 35-40 mutations per kilobase.
  • Identified an average of 23-24 missense and truncation alleles per gene, with >90% of genes having at least one deleterious mutation.

Conclusions:

  • The generated public collection of mutant wheat stocks and sequence data facilitates rapid mutation identification across gene copies.
  • This resource aids in uncovering hidden genetic variation in polyploid wheat.
  • The developed strategy and methods are applicable to other polyploid crops, advancing plant evolution research.