Segmental duplications and the evolution of the primate genome

ABSTRACT Initial human genome sequence analysis has revealed large segments of nearly identical sequence in particular chromosomal regions. The recent origin of these segments and their

abundance (∼5%) has challenged investigators to elucidate their underlying mechanism and role in primate genome evolution. Although the precise fraction is unknown, some of these duplicated

segments have recently been shown to be associated with rapid gene innovation and chromosomal rearrangement in the genomes of man and the great apes. Access through your institution Buy or

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RECURRENT INVERSION TOGGLING AND GREAT APE GENOME EVOLUTION Article 15 June 2020 RECONSTRUCTION OF HUNDREDS OF REFERENCE ANCESTRAL GENOMES ACROSS THE EUKARYOTIC KINGDOM Article Open access

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_Science_ 289, 1295–1296 (2000). Article  CAS  Google Scholar  Download references ACKNOWLEDGEMENTS This work is supported by the National Institutes of Health, the Department of Energy and

the Charles B. Wang Foundation. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Genetics and Center for Human Genetics, School of Medicine and University Hospitals of Cleveland,

Case Western Reserve University, Cleveland, 44106, Ohio, USA Rhea Vallente Samonte & Evan E. Eichler Authors * Rhea Vallente Samonte View author publications You can also search for this

author inPubMed Google Scholar * Evan E. Eichler View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Evan E. Eichler.

RELATED LINKS RELATED LINKS DATABASES LOCUSLINK  _ABCD1_ _CMT1A_ ECP NPIP _SLC6A8_  OMIM  Charcot–Marie–Tooth neuropathy type 1A Williams–Beuren syndrome  UNIGENE  Hs.135840 LINKS AF132984

GLOSSARY * DOMAIN ACCRETION The evolution of larger multidomain proteins by the addition of DNA segments that encode distinct structural domains. * G4 DNA G-quartet or quadruplex DNA

structure formed _in vitro_ by DNA oligonucleotides with repeats that contain three or more consecutive guanines. In the mammalian genome, such regions (for example, telomeres, rDNA and

immunoglobulin heavy-chain segments) have specialized recombination properties. * HOMINOID A primate superfamily that includes the great ape species and humans (hominids). * L1 ELEMENT A

family of long, interspersed repeat elements (LINE1) that is still actively retrotransposing in the mammalian genome. * NEGATIVE SELECTION A process in which the effective rate of synonymous

change exceeds that of amino-acid replacement between homologous genes. It can occur when most non-synonymous changes in the gene are selectively deleterious and decrease the fitness of the

species. * PARACENTRIC INVERSION A structural chromosome alteration that results from breakage, inversion and reinsertion of a fragment of a chromosomal arm. * PERICENTRIC INVERSION A

structural chromosome alteration that results from breakage, inversion and reinsertion of a fragment that spans the centromere. * POSITIVE SELECTION A process in which the effective rate of

amino-acid replacement exceeds that of synonymous change between homologous genes. It can occur when non-synonymous changes in the gene are selectively advantageous and increase the fitness

of the species. * PROGENITOR LOCUS Ancestral locus from which the first segmental duplication is generated. * STASIPATRIC SPECIATION Emergence of a new species as a consequence of

chromosomal rearrangement and genetic isolation due to reduced fecundity and/or fertility of the hybrid species. * STRUCTURAL POLYMORPHISM A large (usually greater than a few kilobases)

chromosomal rearrangement (deletion, duplication or inversion) that is inherited and is polymorphic in a species. If such polymorphisms are cytogenetically visible, they are termed

'heteromorphisms'. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Samonte, R., Eichler, E. Segmental duplications and the evolution of the

primate genome. _Nat Rev Genet_ 3, 65–72 (2002). https://doi.org/10.1038/nrg705 Download citation * Issue Date: 01 January 2002 * DOI: https://doi.org/10.1038/nrg705 SHARE THIS ARTICLE

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