Segmental duplication
Encyclopedia
Segmental duplications are segments of DNA with near-identical sequence.

Segmental duplications (SDs) give rise to low copy repeats (LCRs) and are believed to have played a role in creating new primate genes as reflected in human genetic variation. In humans, chromosomes Y and 22 have the greatest proportion of SDs: 50.4% and 11.9% respectively.

Detection Method

The two widely accepted methods for SD detection are whole genome assembly comparison (WGAC) and whole genome shotgun sequence detection (WSSD).

See also

  • Copy number variation
  • Pseudogenes
  • Molecular evolution
    Molecular evolution
    Molecular evolution is in part a process of evolution at the scale of DNA, RNA, and proteins. Molecular evolution emerged as a scientific field in the 1960s as researchers from molecular biology, evolutionary biology and population genetics sought to understand recent discoveries on the structure...

  • Human genome
    Human genome
    The human genome is the genome of Homo sapiens, which is stored on 23 chromosome pairs plus the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs, while the remaining pair is sex-determining...

  • Comparative genomics
    Comparative genomics
    Comparative genomics is the study of the relationship of genome structure and function across different biological species or strains. Comparative genomics is an attempt to take advantage of the information provided by the signatures of selection to understand the function and evolutionary...

  • Inparanoid
    Inparanoid
    INPARANOID is an algorithm which finds orthologous genes and those paralogous genes which arose—most likely by duplication--after some speciation event...

  • Tandem exon duplication
    Tandem exon duplication
    Tandem exon duplication is defined as duplication of exons within the same gene to give rise to the subsequent exon. A complete exon analysis of all genes in Homo sapiens, Drosophila melanogaster and Caenorhabditis elegans has shown 12,291 instances of tandem duplication in exons in human, fly and...

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