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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
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,...

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Published on: November 3, 2010

Computing genetic imprinting expressed by haplotypes.

Yun Cheng1, Arthur Berg, Song Wu

  • 1Department of Statistics, University of Florida, Gainesville, FL, USA.

Methods in Molecular Biology (Clifton, N.J.)
|September 19, 2009
PubMed
Summary
This summary is machine-generated.

Genetic imprinting, where parental gene copies express differently, impacts traits. A new statistical model maps these imprinting effects at the haplotype level, advancing understanding of complex traits.

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Area of Science:

  • Genetics
  • Genomics
  • Bioinformatics

Background:

  • Genetic imprinting involves differential expression of maternal and paternal alleles.
  • Understanding imprinting in complex gene networks is crucial for trait development and evolution.
  • Genetic mapping aids in identifying imprinted genes and their effects.

Purpose of the Study:

  • To develop a novel statistical model for estimating imprinting effects at the haplotype level.
  • To characterize differences in maternal and paternal haplotype effects.
  • To apply the model for genetic association studies and understanding complex quantitative traits.

Main Methods:

  • Developed a statistical model for imprinting effect estimation using haplotypes of single-nucleotide polymorphisms.
  • Utilized genetic mapping principles with advanced statistical approaches.
  • Applied the model to a human population sample to analyze body mass index.

Main Results:

  • Successfully mapped imprinted haplotype effects on body mass index.
  • Detected significant imprinting effects at the haplotype level in a human population.
  • The new model effectively characterizes allele-specific effects.

Conclusions:

  • The developed statistical model is a valuable tool for genetic association studies.
  • This approach enables characterization of the genetic architecture of complex traits at the nucleotide level.
  • Further research can utilize this model to explore imprinting's role in various biological processes.