Genome architecture, rearrangements and genomic disorders

Stankiewicz, Paweł; Lupski, James R.

doi:10.1016/s0168-9525(02)02592-1

Cited by 826 publications

(772 citation statements)

References 78 publications

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“…This process, called homologous recombination or crossing over, plays an instrumental role in expanding the genetic diversity of a population. In rare instances, however, the exchange of genetic material can occur between 2 different sites (non‐allelic homologous recombination [NAHR]), resulting in an unequal exchange of genetic material 59. Although NAHR often is the source of many disease‐causing CNVs, this process plays a key role in the formation of gene families and the birth of new genes.…”

Section: Copy Number Variantsmentioning

confidence: 99%

Genetic Susceptibility to Rhodococcus equi

McQueen

Dindot

2015

Veterinary Internal Medicne

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Rhodococcus equi pneumonia is a major cause of morbidity and mortality in neonatal foals. Much effort has been made to identify preventative measures and new treatments for R. equi with limited success. With a growing focus in the medical community on understanding the genetic basis of disease susceptibility, investigators have begun to evaluate the interaction of the genetics of the foal with R. equi. This review describes past efforts to understand the genetic basis underlying R. equi susceptibility and tolerance. It also highlights the genetic technology available to study horses and describes the use of this technology in investigating R. equi. This review provides readers with a foundational understanding of candidate gene approaches, single nucleotide polymorphism‐based, and copy number variant‐based genome‐wide association studies, and next generation sequencing (both DNA and RNA).

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Section: Copy Number Variantsmentioning

confidence: 99%

Genetic Susceptibility to Rhodococcus equi

McQueen

Dindot

2015

Veterinary Internal Medicne

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“…These suggest that either particular chromosomal motifs, for example, low copy repeats, or AT-rich palindromes or, alternatively, the physical properties of the DNA sequences increase the risk of architectural rearrangements. [14][15][16][17][18][19][20] Different explanations are likely to be required for random (unique) or conserved (recurrent) rearrangements.…”

Section: Cytogenetics As a Tool For Hunting Disease Genesmentioning

confidence: 99%

Cytogenetics and gene discovery in psychiatric disorders

et al. 2005

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The disruption of genes by balanced translocations and other rare germline chromosomal abnormalities has played an important part in the discovery of many common Mendelian disorder genes, somatic oncogenes and tumour supressors. A search of published literature has identified 15 genes whose genomic sequences are directly disrupted by translocation breakpoints in individuals with neuropsychiatric illness. In these cases, it is reasonable to hypothesise that haploinsufficiency is a major factor contributing to illness. These findings suggest that the predicted polygenic nature of psychiatric illness may not represent the complete picture; genes of large individual effect appear to exist. Cytogenetic events may provide important insights into neurochemical pathways and cellular processes critical for the development of complex psychiatric phenotypes in the population at large.

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“…Ces évolutions ont conduit d'une part à l'individualisation d'une nouvelle classe de maladies génétiques, les désordres génomiques, qui regroupent des maladies mendéliennes, des syndromes de gènes contigus et d'autres types de remaniements chromosomiques [3,4] (Tableau I) et d'autre part, à une meilleure compréhension de l'origine et de la formation des aneuploïdies [5] qui constituent avec les désordres génomiques la première cause connue de handicap mental et physique.…”

Section: Catherine Turleau Michel Vekemansunclassified

Nouvelles données en génétique chromosomique

Turleau

Vekemans

2005

Med Sci (Paris)

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Genome architecture, rearrangements and genomic disorders

Cited by 826 publications

References 78 publications

Genetic Susceptibility to Rhodococcus equi

Genetic Susceptibility to Rhodococcus equi

Cytogenetics and gene discovery in psychiatric disorders

Nouvelles données en génétique chromosomique

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