Molecular Biology and Evolution 18:926-935 (2001)
© 2001 Society for Molecular Biology and Evolution
ARTICLE |
Selection Against Deleterious LINE-1-Containing Loci in the Human Lineage
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland
We compared sex chromosomal and autosomal regions of similar GC contents and found that the human Y chromosome contains nine times as many full-length (FL) ancestral LINE-1 (L1) elements per megabase as do autosomes and that the X chromosome contains three times as many. In addition, both sex chromosomes contain a ca. twofold excess of elements that are >500 bp but not long enough to be capable of autonomous replication. In contrast, the autosomes are not deficient in short (<500 bp) L1 elements or SINE elements relative to the sex chromosomes. Since neither the Y nor the X chromosome, when present in males, can be cleared of deleterious genetic loci by recombination, we conclude that most FL L1s were deleterious and thus subject to purifying selection. Comparison between nonrecombining and recombining regions of autosome 21 supported this conclusion. We were able to identify a subset of loci in the human DNA database that once contained active L1 elements, and we found by using the polymerase chain reaction that 72% of them no longer contain L1 elements in a representative of each of eight different ethnic groups. Genetic damage produced by both L1 retrotransposition and ectopic (nonallelic) recombination between L1 elements could provide the basis for their negative selection.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  A. D. Cutter, A. Dey, and R. L. Murray Evolution of the Caenorhabditis elegans Genome Mol. Biol. Evol., June 1, 2009; 26(6): 1199 - 1234. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Han, J. Lee, T. J. Meyer, P. Remedios, L. Goodwin, and M. A. Batzer L1 recombination-associated deletions generate human genomic variation PNAS, December 9, 2008; 105(49): 19366 - 19371. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J.-C. Walser, L. Ponger, and A. V. Furano CpG dinucleotides and the mutation rate of non-CpG DNA Genome Res., September 1, 2008; 18(9): 1403 - 1414. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Akagi, J. Li, R. M. Stephens, N. Volfovsky, and D. E. Symer Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition Genome Res., June 1, 2008; 18(6): 869 - 880. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V. P. Belancio, D. J. Hedges, and P. Deininger Mammalian non-LTR retrotransposons: For better or worse, in sickness and in health Genome Res., March 1, 2008; 18(3): 343 - 358. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Katzourakis, V. Pereira, and M. Tristem Effects of Recombination Rate on Human Endogenous Retrovirus Fixation and Persistence J. Virol., October 1, 2007; 81(19): 10712 - 10717. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. K. Sen, C. T. Huang, K. Han, and M. A. Batzer Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome Nucleic Acids Res., June 28, 2007; 35(11): 3741 - 3751. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Xing, H. Wang, V. P. Belancio, R. Cordaux, P. L. Deininger, and M. A. Batzer From the Cover: Eukaryotic Transposable Elements and Genome Evolution Special Feature: Emergence of primate genes by retrotransposon-mediated sequence transduction PNAS, November 21, 2006; 103(47): 17608 - 17613. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Chen, A. Rattner, and J. Nathans Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements Hum. Mol. Genet., July 1, 2006; 15(13): 2146 - 2156. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Boissinot, J. Davis, A. Entezam, D. Petrov, and A. V. Furano Fitness cost of LINE-1 (L1) activity in humans PNAS, June 20, 2006; 103(25): 9590 - 9594. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. V. Babushok, E. M. Ostertag, C. E. Courtney, J. M. Choi, and H. H. Kazazian Jr. L1 integration in a transgenic mouse model Genome Res., February 1, 2006; 16(2): 240 - 250. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Khan, A. Smit, and S. Boissinot Molecular evolution and tempo of amplification of human LINE-1 retrotransposons since the origin of primates Genome Res., January 1, 2006; 16(1): 78 - 87. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Han, S. K. Sen, J. Wang, P. A. Callinan, J. Lee, R. Cordaux, P. Liang, and M. A. Batzer Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages Nucleic Acids Res., July 20, 2005; 33(13): 4040 - 4052. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. E. Neafsey, J. P. Blumenstiel, and D. L. Hartl Different Regulatory Mechanisms Underlie Similar Transposable Element Profiles in Pufferfish and Fruitflies Mol. Biol. Evol., December 1, 2004; 21(12): 2310 - 2318. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Boissinot, A. Entezam, L. Young, P. J. Munson, and A. V. Furano The Insertional History of an Active Family of L1 Retrotransposons in Humans Genome Res., July 1, 2004; 14(7): 1221 - 1231. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Ergun, C. Buschmann, J. Heukeshoven, K. Dammann, F. Schnieders, H. Lauke, F. Chalajour, N. Kilic, W. H. Stratling, and G. G. Schumann Cell Type-specific Expression of LINE-1 Open Reading Frames 1 and 2 in Fetal and Adult Human Tissues J. Biol. Chem., June 25, 2004; 279(26): 27753 - 27763. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J. Hedges, P. A. Callinan, R. Cordaux, J. Xing, E. Barnes, and M. A. Batzer Differential Alu Mobilization and Polymorphism Among the Human and Chimpanzee Lineages Genome Res., June 1, 2004; 14(6): 1068 - 1075. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. H. Farley, E. T. Luning Prak, and H. H. Kazazian Jr More active human L1 retrotransposons produce longer insertions Nucleic Acids Res., January 23, 2004; 32(2): 502 - 510. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. S. Hansen X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis Hum. Mol. Genet., October 1, 2003; 12(19): 2559 - 2567. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. I. Wright, N. Agrawal, and T. E. Bureau Effects of Recombination Rate and Gene Density on Transposable Element Distributions in Arabidopsis thaliana Genome Res., August 1, 2003; 13(8): 1897 - 1903. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Ejima and L. Yang Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling Hum. Mol. Genet., June 1, 2003; 12(11): 1321 - 1328. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Bartolome, X. Maside, and B. Charlesworth On the Abundance and Distribution of Transposable Elements in the Genome of Drosophila melanogaster Mol. Biol. Evol., June 1, 2002; 19(6): 926 - 937. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Greally Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome PNAS, December 21, 2001; (2001) 12539199. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. M. Ostertag and H. H. Kazazian Jr. Twin Priming: A Proposed Mechanism for the Creation of Inversions in L1 Retrotransposition Genome Res., December 1, 2001; 11(12): 2059 - 2065. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Boissinot and A. V. Furano Adaptive Evolution in LINE-1 Retrotransposons Mol. Biol. Evol., December 1, 2001; 18(12): 2186 - 2194. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Greally Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome PNAS, January 8, 2002; 99(1): 327 - 332. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Rizzon, G. Marais, M. Gouy, and C. Biemont Recombination Rate and the Distribution of Transposable Elements in the Drosophila melanogaster Genome Genome Res., March 1, 2002; 12(3): 400 - 407. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Ovchinnikov, A. B. Troxel, and G. D. Swergold Genomic Characterization of Recent Human LINE-1 Insertions: Evidence Supporting Random Insertion Genome Res., December 1, 2001; 11(12): 2050 - 2058. [Abstract] [Full Text] [PDF]
|
|