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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...
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA ends...
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA ends...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Microdeletion and microduplication syndromes.

Lisenka E L M Vissers1, Paweł Stankiewicz

  • 1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Methods in Molecular Biology (Clifton, N.J.)
|January 10, 2012
PubMed
Summary

Microdeletions and microduplications, known as genomic disorders, are increasingly linked to various diseases and individual differences. Understanding their genomic basis is crucial for diagnosing and treating these conditions.

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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Microarray technologies like aCGH and SNP arrays have revolutionized the study of genome-wide structural variations.
  • Submicroscopic genomic rearrangements, or copy-number variations (CNVs), play a significant role in primate evolution and human phenotypic diversity.
  • Chromosomal microdeletions and microduplications, termed genomic disorders, are increasingly recognized as causes of various diseases.

Purpose of the Study:

  • To provide an overview of common microdeletion and microduplication syndromes.
  • To describe the clinical phenotypes associated with these genomic disorders.
  • To discuss the genomic structures, molecular formation mechanisms, and phenotypic consequences of these rearrangements.

Main Methods:

  • Review of current literature on microarray-based technologies.
  • Analysis of genomic structures and molecular mechanisms underlying microdeletions and microduplications.
  • Correlation of genomic rearrangements with observed clinical phenotypes.

Main Results:

  • Microdeletions and microduplications are implicated in a broad spectrum of conditions, including Mendelian diseases and complex traits.
  • These genomic disorders manifest in phenotypes such as developmental delay, intellectual disability, autism, schizophrenia, obesity, and epilepsy.
  • The study details the genomic architecture and formation pathways of these variations.

Conclusions:

  • Genomic disorders resulting from microdeletions and microduplications are a significant factor in human health and disease.
  • Understanding the mechanisms of these rearrangements is key to explaining abnormal phenotypes.
  • This knowledge aids in the diagnosis and potential treatment strategies for affected individuals.