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Literature DB >> 19543269

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Feng Zhang¹, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, James R Lupski.

Abstract

We recently proposed a DNA replication-based mechanism of fork stalling and template switching (FoSTeS) to explain the complex genomic rearrangements associated with a dysmyelinating central nervous system disorder in humans. The FoSTeS mechanism has been further generalized and molecular mechanistic details have been provided in the microhomology-mediated break-induced replication (MMBIR) model that may underlie many structural variations in genomes from all domains of life. Here we provide evidence that human genomic rearrangements ranging in size from several megabases to a few hundred base pairs can be generated by FoSTeS/MMBIR. Furthermore, we show that FoSTeS/MMBIR-mediated rearrangements can occur mitotically and can result in duplication or triplication of individual genes or even rearrangements of single exons. The FoSTeS/MMBIR mechanism can explain both the gene duplication-divergence hypothesis and exon shuffling, suggesting an important role in both genome and single-gene evolution.

Entities: Chemical Disease Gene Species

Mesh：

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Year: 2009 PMID： 19543269 PMCID： PMC4461229 DOI： 10.1038/ng.399

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

33 in total

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Authors: John R Lydeard; Suvi Jain; Miyuki Yamaguchi; James E Haber
Journal: Nature Date: 2007-08-01 Impact factor: 49.962

3. Template switching during break-induced replication.

Authors: Catherine E Smith; Bertrand Llorente; Lorraine S Symington
Journal: Nature Date: 2007-04-04 Impact factor: 49.962

Review 4. Complex human chromosomal and genomic rearrangements.

Authors: Feng Zhang; Claudia M B Carvalho; James R Lupski
Journal: Trends Genet Date: 2009-06-25 Impact factor: 11.639

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6. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

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Journal: Am J Hum Genet Date: 2007-02-26 Impact factor: 11.025

7. Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.

Authors: Martin F Arlt; Jennifer G Mulle; Valerie M Schaibley; Ryan L Ragland; Sandra G Durkin; Stephen T Warren; Thomas W Glover
Journal: Am J Hum Genet Date: 2009-02-19 Impact factor: 11.025

8. On the mechanism of gene amplification induced under stress in Escherichia coli.

Authors: Andrew Slack; P C Thornton; Daniel B Magner; Susan M Rosenberg; P J Hastings
Journal: PLoS Genet Date: 2006-04-07 Impact factor: 5.917

9. Mapping and sequencing of structural variation from eight human genomes.

Authors: Jeffrey M Kidd; Gregory M Cooper; William F Donahue; Hillary S Hayden; Nick Sampas; Tina Graves; Nancy Hansen; Brian Teague; Can Alkan; Francesca Antonacci; Eric Haugen; Troy Zerr; N Alice Yamada; Peter Tsang; Tera L Newman; Eray Tüzün; Ze Cheng; Heather M Ebling; Nadeem Tusneem; Robert David; Will Gillett; Karen A Phelps; Molly Weaver; David Saranga; Adrianne Brand; Wei Tao; Erik Gustafson; Kevin McKernan; Lin Chen; Maika Malig; Joshua D Smith; Joshua M Korn; Steven A McCarroll; David A Altshuler; Daniel A Peiffer; Michael Dorschner; John Stamatoyannopoulos; David Schwartz; Deborah A Nickerson; James C Mullikin; Richard K Wilson; Laurakay Bruhn; Maynard V Olson; Rajinder Kaul; Douglas R Smith; Evan E Eichler
Journal: Nature Date: 2008-05-01 Impact factor: 49.962

10. Mechanisms for human genomic rearrangements.

Authors: Wenli Gu; Feng Zhang; James R Lupski
Journal: Pathogenetics Date: 2008-11-03

210 in total

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Review 3. CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Authors: Dheeraj Malhotra; Jonathan Sebat
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4. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.

Authors: Pengfei Liu; Melanie Lacaria; Feng Zhang; Marjorie Withers; P J Hastings; James R Lupski
Journal: Am J Hum Genet Date: 2011-10-07 Impact factor: 11.025

5. RAD51 mutants cause replication defects and chromosomal instability.

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Journal: Mol Cell Biol Date: 2012-07-09 Impact factor: 4.272

6. Detection of clinically relevant exonic copy-number changes by array CGH.

Authors: Philip M Boone; Carlos A Bacino; Chad A Shaw; Patricia A Eng; Patricia M Hixson; Amber N Pursley; Sung-Hae L Kang; Yaping Yang; Joanna Wiszniewska; Beata A Nowakowska; Daniela del Gaudio; Zhilian Xia; Gayle Simpson-Patel; LaDonna L Immken; James B Gibson; Anne C-H Tsai; Jennifer A Bowers; Tyler E Reimschisel; Christian P Schaaf; Lorraine Potocki; Fernando Scaglia; Tomasz Gambin; Maciej Sykulski; Magdalena Bartnik; Katarzyna Derwinska; Barbara Wisniowiecka-Kowalnik; Seema R Lalani; Frank J Probst; Weimin Bi; Arthur L Beaudet; Ankita Patel; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal: Hum Mutat Date: 2010-11-02 Impact factor: 4.878