Genome architecture, rearrangements and genomic disorders.

By Pawel Stankiewicz, J. R. Lupski. Trends in Genetics, 2002

961 citations recorded by the source corpus.

Subfields: Genetics, Plant Science

View Paper: https://www.semanticscholar.org/paper/3d4c4a4718c7b0cfbf6ea9c9e11c3c9902a9b1f1

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Stephen W. Scherer
2. J. R. Lupski
3. Feng Zhang
4. W. Gu
5. Edwin H. Cook Jr.
6. G. Ira
7. N. Hunter
8. Evan E. Eichler

In Plant Science

1. J. R. Lupski
2. Feng Zhang
3. W. Gu
4. Stephen W. Scherer
5. Edwin H. Cook Jr.
6. G. Ira
7. N. Hunter
8. Evan E. Eichler

Citations in the corpus

• Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes (2005, background): “LCR/NAHR-generated rearrangements occur throughout the genome [1,2], and therefore it is not unreasonable to assume”
• Copy number variation: new insights in genome diversity. (2006, background): “1960; Coco and Penchaszadeh 1982), but their frequency was presumed to be low and for the most part directly related either to tandemly repeated genes or to specific genetic disorders (e.g., Lupski 1998; Ji et al. 2000; Inoue and Lupski 2002; Stankiewicz and Lupski 2002).”
• A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation (2009, neutral): “At the same time MMBIR could create LCRs that provides the homology required for NAHR, leading to genomic disorders in future generations.”
• Segmental duplications and copy-number variation in the human genome. (2005, background): “Presumably, segmental duplications mediate the deletion or duplication of the intervening sequence via nonallelic homologous recombination, supporting the notion that certain regions of the genome are predisposed to rearrangement as a result of their underlying genomic architecture (Stankiewicz and ”
• Meiotic Recombination: The Essence of Heredity. (2015, background): “…copynumber variants resulting from the reciprocal deletion and duplication products of nonallelic recombination are associated with dozens of recurrent human disorders (Stankiewicz and Lupski 2002; Shaw and Lupski 2004; Sharp et al. 2005; Turner et al. 2008; Abyzov et al. 2015; Martin et al. 2015).”
• Mechanisms for human genomic rearrangements (2008, background): “LCRs are region-specific DNA blocks usually of 10 to 300 kilobase (kb) in size and of > 95% to 97% similarity to each other [5,6].”
• Mechanisms of change in gene copy number (2009, background): “There will be no change in structure if a damaged sequence is repaired using homologous sequence in the same chromosomal position in the sister chromatid or the homologous chromosome, but the repair process might utilize homologous sequences in different chromosomal positions through NAH”