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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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...
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Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

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In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
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Inheritance of Chromatin Structures03:17

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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...
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Non-nuclear Inheritance01:29

Non-nuclear Inheritance

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Most DNA resides in the nucleus of a cell. However, some organelles in the cell cytoplasm⁠—such as chloroplasts and mitochondria⁠—also have their own DNA. These organelles replicate their DNA independently of the nuclear DNA of the cell in which they reside. Non-nuclear inheritance describes the inheritance of genes from structures other than the nucleus.
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Inheritance01:25

Inheritance

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Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
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Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
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Related Experiment Video

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Author Spotlight: RNAi Inheritance and ChIP in C. elegans
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Digenic inheritance and Mendelian disease.

James R Lupski1

  • 1Department of Molecular and Human Genetics and the Department of Pediatrics at the Baylor College of Medicine, Houston, Texas, USA. jlupski@bcm.edu

Nature Genetics
|November 30, 2012
PubMed
Summary

New genomic studies reveal digenic inheritance and epigenetic factors in facioscapulohumeral muscular dystrophy type 2 (FSHD2). This research advances our understanding of complex genetic mechanisms in Mendelian traits.

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Mendelian traits are traditionally linked to single-gene mutations.
  • Genomic technologies like exome sequencing are revolutionizing genetic research.
  • Facioscapulohumeral muscular dystrophy type 2 (FSHD2) is a complex genetic disorder.

Purpose of the Study:

  • To investigate the genetic underpinnings of FSHD2.
  • To explore the role of novel genetic mechanisms in Mendelian disorders.
  • To identify factors contributing to FSHD2 pathogenesis.

Main Methods:

  • Exome sequencing was employed to analyze patient genomes.
  • Bioinformatic analysis was used to identify genetic variants.
  • Functional studies were conducted to assess the impact of identified variants.

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Main Results:

  • A digenic inheritance pattern was identified in FSHD2.
  • An epigenetic modifier was found to play a role in FSHD2.
  • Specific gene interactions contributing to FSHD2 were elucidated.

Conclusions:

  • Digenic inheritance and epigenetic modifications are crucial in FSHD2.
  • This study expands the understanding of genetic complexity in Mendelian diseases.
  • Genomic approaches are vital for uncovering novel disease mechanisms.