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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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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.
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.

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Epigenetics in Silver-Russell syndrome.

Sylvie Rossignol1, Irène Netchine, Yves Le Bouc

  • 1Explorations fonctionnelles endocriniennes, Hôpital Trousseau (APHP); INSERM U515; Université Pierre et Marie Curie-Paris6, 26 avenue du Dr Netter, 75012 Paris, France. sylvie.rossignol@trs.aphp.fr

Best Practice & Research. Clinical Endocrinology & Metabolism
|June 10, 2008
PubMed
Summary

Silver-Russell syndrome (SRS) is a complex growth disorder. Recent findings reveal its cause lies in genomic imprinting, particularly involving chromosomes 7 and 11p15, establishing SRS as an imprinting disease model.

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Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Silver-Russell syndrome (SRS) presents as a heterogeneous disorder with intrauterine and postnatal growth retardation, distinct facial features, and body asymmetry.
  • Previously, the molecular basis of SRS was largely unknown, with only a few cases linked to chromosomal abnormalities.
  • Genomic imprinting, an epigenetic process controlling gene expression, is crucial for growth and development.

Purpose of the Study:

  • To elucidate the molecular underpinnings of Silver-Russell syndrome.
  • To establish SRS as a model for studying imprinting disorders.
  • To facilitate molecular diagnosis for improved patient management.

Main Methods:

  • Analysis of imprinted genes on chromosomes 7 and 11p15.
  • Characterization of epigenetic modifications in SRS pathophysiology.
  • Clinical correlation with molecular findings.

Main Results:

  • The molecular cause of SRS is now understood to involve disruptions in genomic imprinting.
  • Imprinted genes on chromosomes 7 and 11p15 are implicated in the pathophysiology of SRS.
  • SRS serves as a paradigm for imprinting-related diseases.

Conclusions:

  • SRS is recognized as an imprinting disease, offering new insights into epigenetic regulation.
  • Molecular diagnostics can now guide long-term follow-up and clinical care for SRS patients.
  • Understanding the imprinting defects in SRS can inform guidelines for managing growth and feeding challenges.