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Genetic Variation01:25

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Non-coding genetic variation in cancer.

Tawny N Cuykendall1,2, Mark A Rubin3,4,5, Ekta Khurana1,2,3,5

  • 1Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, 10065, USA.

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Summary
This summary is machine-generated.

Most cancer genome variations occur in non-coding DNA, but identifying non-coding drivers remains challenging. Further epigenetic data is crucial for understanding regulatory network changes in cancer.

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Area of Science:

  • Genomics
  • Cancer Biology
  • Epigenetics

Background:

  • The majority of somatic genomic variants in cancer are found in non-coding regions.
  • Historically, cancer genomics research has prioritized coding regions due to whole genome sequencing (WGS) costs.
  • Advances in WGS technology are enabling broader exploration of non-coding cancer genomes.

Purpose of the Study:

  • To discuss challenges in identifying non-coding cancer drivers.
  • To explore the interplay between non-coding genetic variation and epigenetic states in tumors.
  • To highlight the necessity of integrating epigenetic data for understanding cancer regulatory networks.

Main Methods:

  • Review of current cancer genomics research focusing on non-coding regions.
  • Analysis of known non-coding regulatory drivers, such as the TERT promoter.
  • Examination of the relationship between genetic variation and epigenetic modifications.

Main Results:

  • Despite comprising most variants, non-coding drivers are less identified than coding drivers.
  • The TERT promoter is a well-characterized example of a non-coding driver in various cancers.
  • Detection of non-coding drivers is hindered by several factors, including the complexity of regulatory elements.

Conclusions:

  • Identifying non-coding drivers in cancer genomes presents significant challenges.
  • Understanding the functional impact of non-coding variants requires integrating genetic and epigenetic information.
  • Future research must incorporate comprehensive epigenetic datasets to fully elucidate cancer's regulatory rewiring.