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PMID: 16477033 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

A large family of ancient repeat elements in the human genome is under strong selection.

Kamal M, Xie X, Lander ES

Abstract

Although conserved noncoding elements (CNEs) constitute the majority of sequences under purifying selection in the human genome, they remain poorly understood. CNEs seem to be largely unique, with no large families of similar elements reported to date. Here, we search for CNEs among the ancestral repeat classes in the human genome and report the discovery of a large CNE family containing >900 members. This family belongs to the MER121 class of repeats. Although the MER121 family members show considerable sequence variation among one another, the individual copies show striking conservation in orthologous locations across the human, dog, mouse, and rat genomes. The element is also present and conserved in orthologous locations in the marsupial, but its genome-wide dispersal postdates the divergence from birds. The comparative genomic data indicate that MER121 does not encode a family of either protein-coding or RNA genes. Although the precise function of these elements remains unknown, the evidence suggests that this unusual family may play a cis-regulatory or structural role in mammalian genomes.

MeSH Terms
Animals Base Sequence DNA/genetics Databases, Genetic Dogs Evolution, Molecular Genome, Human Humans Mice Microsatellite Repeats/genetics,physiology Rats Selection, Genetic Sequence Homology, Nucleic Acid Transcription, Genetic
Chemicals
DNA
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Kamal Michael
Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA.
Xie Xiaohui
Lander Eric S
References (20)
20 references, click to expand
  1. Initial sequencing and analysis of the human genome.
    Nature. 2001 Feb 15;409(6822):860-921 PMID: 11237011
  2. Genome sequence, comparative analysis and haplotype structure of the domestic dog.
    Nature. 2005 Dec 8;438(7069):803-19 PMID: 16341006
  3. Human-mouse alignments with BLASTZ.
    Genome Res. 2003 Jan;13(1):103-7 PMID: 12529312
  4. Origin of a substantial fraction of human regulatory sequences from transposable elements.
    Trends Genet. 2003 Feb;19(2):68-72 PMID: 12547512
  5. Identification and characterization of multi-species conserved sequences.
    Genome Res. 2003 Dec;13(12):2507-18 PMID: 14656959
  6. Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
    Nature. 2004 Apr 1;428(6982):493-521 PMID: 15057822
  7. Aligning multiple genomic sequences with the threaded blockset aligner.
    Genome Res. 2004 Apr;14(4):708-15 PMID: 15060014
  8. Into the heart of darkness: large-scale clustering of human non-coding DNA.
    Bioinformatics. 2004 Aug 4;20 Suppl 1:i40-8 PMID: 15262779
  9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
    Genome Res. 2004 Oct;14(10B):2121-7 PMID: 15489334
  10. Basic local alignment search tool.
    J Mol Biol. 1990 Oct 5;215(3):403-10 PMID: 2231712
  11. Repbase update: a database and an electronic journal of repetitive elements.
    Trends Genet. 2000 Sep;16(9):418-20 PMID: 10973072
  12. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice.
    Nucleic Acids Res. 1994 Nov 11;22(22):4673-80 PMID: 7984417
  13. Genetic and molecular analysis of the gypsy chromatin insulator of Drosophila.
    Proc Natl Acad Sci U S A. 1996 Sep 3;93(18):9378-83 PMID: 8790337
  14. Mobile elements inserted in the distant past have taken on important functions.
    Gene. 1997 Dec 31;205(1-2):177-82 PMID: 9461392
  15. Highly conserved non-coding sequences are associated with vertebrate development.
    PLoS Biol. 2005 Jan;3(1):e7 PMID: 15630479
  16. Mammalian microRNAs derived from genomic repeats.
    Trends Genet. 2005 Jun;21(6):322-6 PMID: 15922829
  17. Distribution and intensity of constraint in mammalian genomic sequence.
    Genome Res. 2005 Jul;15(7):901-13 PMID: 15965027
  18. The transcriptional landscape of the mammalian genome.
    Science. 2005 Sep 2;309(5740):1559-63 PMID: 16141072
  19. Mapping of conserved RNA secondary structures predicts thousands of functional noncoding RNAs in the human genome.
    Nat Biotechnol. 2005 Nov;23(11):1383-90 PMID: 16273071
  20. Initial sequencing and comparative analysis of the mouse genome.
    Nature. 2002 Dec 5;420(6915):520-62 PMID: 12466850
Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
Published
2006-02-21
Epub
2006-00-13
Pages
2740-5
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC1413850
Subset
IM
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