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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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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Incomplete Dominance01:43

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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.
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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...
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Epigenetic Regulation01:46

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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Genetic imprinting in clinical genetics.

A Clarke1

  • 1Institute of Medical Genetics for Wales, University Hospital of Wales, Heath Park, Cardiff, UK.

Development (Cambridge, England). Supplement
|January 1, 1990
PubMed
Summary

Genomic imprinting, a phenomenon where genes are expressed based on parental origin, occurs across various human genetic levels. This epigenetic process influences development and disease, including cancer and congenital anomalies.

Area of Science:

  • Epigenetics
  • Human Genetics
  • Developmental Biology

Background:

  • Genomic imprinting is an epigenetic phenomenon where genes are expressed in a parent-of-origin-specific manner.
  • Imprinting occurs at different scales, from single genes to entire chromosomes.
  • Evidence for imprinting is observed in various human conditions.

Purpose of the Study:

  • To review the evidence and manifestations of genomic imprinting in humans.
  • To highlight the role of imprinting in familial tumor syndromes and chromosomal abnormalities.
  • To discuss the implications of imprinting for congenital anomalies and future research.

Main Methods:

  • Review of existing literature on genomic imprinting.
  • Analysis of genetic imprinting's role in familial tumor syndromes.

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  • Examination of imprinting effects in uniparental disomy and developmental defects.
  • Consideration of imprinting in Fragile X mental retardation.

    • Main Results:

    • Genomic imprinting is confirmed in humans at multiple genetic levels (genome, chromosome, locus).
    • Imprinting is implicated in familial tumor syndromes and chromosomal abnormalities like Prader-Willi syndrome.
    • Developmental defects such as hydatidiform mole, teratoma, and triploidy are linked to genomic imprinting.
    • Imprinting provides an explanation for the unusual inheritance patterns in Fragile X mental retardation.

    Conclusions:

    • Genomic imprinting is a significant factor in human genetics, influencing development and disease.
    • Further research, potentially using mouse models, can elucidate imprinting effects in homologous human chromosomal regions.
    • Imprinting is expected to be identified in more congenital anomalies and growth disorders.