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LETTER: AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12
- Melanie Babcock,
- Svetlana Yatsenko,
- Pawel Stankiewicz,
- James R. Lupski,
- and Bernice E. Morrow
Genome Res. April 2007 17: 451-460; Published in Advance February 6, 2007, doi:10.1101/gr.5651507
...repeats on 22q11 (LCR22) by Alu -mediated recombination events during evolution . Genome Res. 13 : 2519 – 2532 . ↵ Bailey, J.A. , Gu, Z. , Clark, R.A. , Reinert, K. , Samonte, R.V. , Schwartz, S. , Adams, M.D. , Myers, E.W. , Li, P.W. , Eichler, E.E. ( 2002 ) Recent segmental duplications in the human...
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ARTICLE: Serial segmental duplications during primate evolution result in complex human genome architecture
- Paweł Stankiewicz,
- Christine J. Shaw,
- Marjorie Withers,
- Ken Inoue,
- and James R. Lupski
Genome Res. November 2004 14: 2209-2220; doi:10.1101/gr.2746604
...., and Morrow, B.E. 2003 . Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu -mediated recombination events during evolution. Genome Res. 13 : 2519 -2532. ↵ Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J., and Eichler, E.E. 2001 . Segmental duplications: Organization and impact within...
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LETTER: Organization and Evolution of a Gene-Rich Region of the Mouse Genome: A 12.7-Mb Region Deleted in the Del(13)Svea36H Mouse
- Ann-Marie Mallon,
- Laurens Wilming,
- Joseph Weekes,
- James G.R. Gilbert,
- Jennifer Ashurst,
- Sandrine Peyrefitte,
- Lucy Matthews,
- Matthew Cadman,
- Richard McKeone,
- Chris A. Sellick,
- Ruth Arkell,
- Marc R.M. Botcherby,
- Mark A. Strivens,
- R. Duncan Campbell,
- Simon Gregory,
- Paul Denny,
- John M. Hancock,
- Jane Rogers,
- and Steve D.M. Brown
Genome Res. October 2004 14: 1888-1901; Published in Advance September 13, 2004, doi:10.1101/gr.2478604
...Organization and Evolution of a Gene-Rich Region of the Mouse Genome: A 12.7-Mb Region Deleted in the Del(13) Svea 36H Mouse Ann-Marie Mallon 1 , 4 , Laurens Wilming 2 , 4 , Joseph Weekes 1 , James G.R. Gilbert 2 , Jennifer Ashurst 2...
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ARTICLE: Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome
- Adam Pavlicek,
- Reniqua House,
- Andrew J. Gentles,
- Jerzy Jurka,
- and Bernice E. Morrow
Genome Res. November 2005 15: 1487-1495; doi:10.1101/gr.4281205
...., Shaffer, L.G., Jurka, J., and Morrow, B.E. 2003 . Shuffling of genes within low-copy repeats on 22q11 (LCR22) by -mediated recombination events during evolution. Genome Res. 13 : 2519 –2532. ↵ Bailey, J.A., Gu, Z., Clark, R.A., Reinert, K., Samonte, R.V., Schwartz, S., Adams, M.D., Myers, E.W., Li, P...
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LETTER: Molecular cloning of a translocation breakpoint hotspot in 22q11
- Hiroki Kurahashi,
- Hidehito Inagaki,
- Eriko Hosoba,
- Takema Kato,
- Tamae Ohye,
- Hiroshi Kogo,
- and Beverly S. Emanuel
Genome Res. April 2007 17: 461-469; Published in Advance January 31, 2007, doi:10.1101/gr.5769507
...-rich repeat in NF1 gene is hypervariable in human and evolutionally conserved among primates . Hum. Mutat. 26 : 332 – 342 . ↵ Kato, T. , Inagaki, H. , Yamada, K. , Kogo, H. , Ohye, T. , Kowa, H. , Nagaoka, K. , Taniguchi, M. , Emanuel, B.S. , Kurahashi, H. ( 2006 ) Genetic variation affects de novo...
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ARTICLE: Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23
- Anna Antonell,
- Oscar de Luis,
- Xavier Domingo-Roura,
- and Luis Alberto Pérez-Jurado
Genome Res. September 2005 15: 1179-1188; doi:10.1101/gr.3944605
...consists of segmental duplications or low-copy repeats, which are large, highly homologous (&gt;95%) fragments of sequence. It has been estimated that these segmental duplications emerged during the past ∼35 million years (Myr) of human evolution and that they correlate with chromosomal rearrangements...
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LETTER: Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica
- Andrew J. Gentles,
- Matthew J. Wakefield,
- Oleksiy Kohany,
- Wanjun Gu,
- Mark A. Batzer,
- David D. Pollock,
- and Jerzy Jurka
Genome Res. July 2007 17: 992-1004; Published in Advance May 10, 2007, doi:10.1101/gr.6070707
...of terminal inverted repeats (TIRs) and 2-bp target site duplications (TSDs). The total genomic content of DNA transposons is ∼1.73%. This is lower than the 2.84% found in humans, which is likely to be due to the fact that many more low copy-number elements (typically with less than a few hundred insertion...
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ARTICLE: Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27
- Natalay Kouprina,
- Adam Pavlicek,
- Vladimir N. Noskov,
- Greg Solomon,
- John Otstot,
- William Isaacs,
- John D. Carpten,
- Jeffrey M. Trent,
- Joanna Schleutker,
- J. Carl Barrett,
- Jerzy Jurka,
- and Vladimir Larionov
Genome Res. November 2005 15: 1477-1486; doi:10.1101/gr.4212705
...-based sequence transfer events were identified within the region and were presumably caused by recombinational interactions between SDs harboring the SPANX genes. These interactions contribute to diversity of the SPANX coding regions in humans. We speculate that the predisposition to prostate cancer in X...
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ARTICLE: Complex genomic rearrangements lead to novel primate gene function
- Francesca D. Ciccarelli,
- Christian von Mering,
- Mikita Suyama,
- Eoghan D. Harrington,
- Elisa Izaurralde,
- and Peer Bork
Genome Res. March 2005 15: 343-351; Published in Advance February 14, 2005, doi:10.1101/gr.3266405
...generation of protein database search programs. Nucleic Acids Res. 25 : 3389 -3402. ↵ Babcock, M., Pavlicek, A., Spiteri, E., Kashork, C.D., Ioshikhes, I., Shaffer, L.G., Jurka, J., and Morrow, B.E. 2003 . Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu -mediated recombination events...
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REVIEW: Mammalian non-LTR retrotransposons: For better or worse, in sickness and in health
- Victoria P. Belancio,
- Dale J. Hedges,
- and Prescott Deininger
Genome Res. March 2008 18: 343-358; Published in Advance February 6, 2008, doi:10.1101/gr.5558208
...that might occur for L1 insertions on the autosomes (see “Post-insertional mutagenesis,” below). Thus, while many additional disease-causing insertions do occur on the autosomes, a large fraction are ultimately lost due to recombination events which convert them from recessive alleles to lethal large...
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