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Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

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Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
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Histone Variants at the Centromere02:30

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Human Genetics01:28

Human Genetics

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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.
The complex relationship between genetics and psychology is observable through common biological components such...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Related Experiment Video

Updated: May 1, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Vive la différence: naming structural variants in the human reference genome.

Ruth L Seal, Mathew W Wright, Kristian A Gray

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    |May 3, 2013
    PubMed
    Summary
    This summary is machine-generated.

    The HUGO Gene Nomenclature Committee names human genes, including those in complex genomic regions with structural variations. This ensures clear gene identification and representation on the genenames.org website.

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    Area of Science:

    • Genomics
    • Human Genetics
    • Bioinformatics

    Background:

    • The HUGO Gene Nomenclature Committee (HGNC) assigns standardized gene symbols for protein-coding genes within the human reference genome.
    • The Genome Reference Consortium (GRC) now incorporates alternative sequence representations for genomic regions exhibiting complex structural variations.
    • Accurate gene naming is crucial for consistent data interpretation and communication in genetic research.

    Discussion:

    • This work details the methodology for naming novel genes located within these complex, structurally variable regions.
    • The nomenclature strategy addresses the challenges posed by alternative haplotypes and complex rearrangements.
    • Examples illustrate the practical application of these naming conventions.

    Key Insights:

    • A systematic approach has been developed to name genes in structurally complex genomic regions.
    • The HGNC nomenclature is adapted to accommodate alternative reference genome sequences.
    • The genenames.org website provides a platform for displaying and accessing this updated gene information.

    Outlook:

    • Continued refinement of gene naming conventions for complex genomic regions.
    • Integration of novel gene nomenclature into broader genomic databases and resources.
    • Facilitating improved understanding and analysis of human genetic variation.