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Related Concept Videos

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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A false single nucleotide polymorphism generated by gene duplication compromises meat traceability.

Arianne Sanz1, Laura Ordovás, Pilar Zaragoza

  • 1Laboratorio de Genética Bioquímica (LAGENBIO), Facultad de Veterinaria, Universidad de Zaragoza, Zaragoza, Spain. arianne@unizar.es

Meat Science
|March 13, 2012
PubMed
Summary
This summary is machine-generated.

A common genetic marker for cattle traceability was found to be a false positive. This discovery impacts food safety studies and necessitates re-evaluation of genetic identification methods.

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Area of Science:

  • Genetics
  • Food Safety
  • Animal Science

Background:

  • Single Nucleotide Polymorphisms (SNPs) are crucial for meat traceability and food safety.
  • Genetic identification panels often include SNPs for bovine traceability.
  • The cytochrome P450 17A1 gene is a target for genetic marker development.

Purpose of the Study:

  • To evaluate the utility of the g.329C>T SNP in the cytochrome P450 17A1 gene for bovine genetic identification and traceability.
  • To analyze the genetic diversity and population structure of eight Spanish cattle breeds using selected SNPs.
  • To validate the accuracy of SNPs used in established traceability panels.

Main Methods:

  • Analysis of 701 samples from eight Spanish cattle breeds.
  • Utilized minisequencing reactions for SNP genotyping.
  • Performed alignment analysis and sequencing to verify SNP status.

Main Results:

  • An unexpected excess of heterozygotes was observed for the g.329C>T SNP, indicating a significant departure from Hardy-Weinberg equilibrium (P<0.001).
  • Sequence and alignment analyses revealed that the g.329C>T SNP is a false positive polymorphism.
  • This false positive explains the inflated heterozygote values and potential misinterpretations in previous studies.

Conclusions:

  • The g.329C>T SNP is unreliable for bovine identification, traceability, and disease association studies.
  • Recommend excluding ambiguous SNPs in this region from future genetic analyses.
  • Accurate annotation of genetic markers is essential to improve the reliability of association studies and prevent misinterpretations in food safety research.