“Non-allelic homologous recombination”的意思、由来-开放百科全书

It usually occurs between sequences of DNA that have been previously duplicated through evolution, and therefore have low copy repeats (LCRs). These repeat elements typically range from 10–300 kb in length and share 95-97% sequence identity.^[3] During meiosis or mitosis, LCRs can misalign and subsequent crossing-over can result in genetic rearrangement.^[3] When non-allelic homologous recombination occurs between different LCRs, deletions or further duplications of the DNA can occur. This can give rise to rare genetic disorders, caused by the loss or increased copy number of genes within the deleted or duplicated region. It can also contribute to the copy number variation seen in some gene clusters.^[4]

As LCRs are often found in "hotspots" in the human genome, some chromosomal regions are particularly prone to NAHR.^[5] Recurrent rearrangements are nucleotide sequence variations found in multiple individuals, sharing a common size and location of break points.^[3] Therefore, multiple patients may manifest with similar deletions or duplications, resulting in the description of genetic syndromes. Examples of these include NF1 microdeletion syndrome, 17q21.3 recurrent microdeletion syndrome or 3q29 microdeletion syndrome.^[6]^[7]^[8]

See also

References

1. ^{{cite journal |vauthors=Beckmann JS, Estivill X, Antonarakis SE |title=Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability |journal=Nat. Rev. Genet. |volume=8 |issue=8 |pages=639–46 |date=August 2007 |pmid=17637735 |doi=10.1038/nrg2149 |url=}}
2. ^{{Cite journal|url = |title = The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer|last = Colnaghi|first = Rita|date = July 2011|journal = Seminars in Cell & Developmental Biology|doi = 10.1016/j.semcdb.2011.07.010|pmid = 21802523|access-date =|volume=22|issue = 8|pages=875–885}}
3. ^¹²{{Cite journal|title = The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer|journal = Seminars in Cell & Developmental Biology|date = 2011-10-01|pages = 875–885|volume = 22|series = Polarized growth and movement: How to generate new shapes and structuresChromosome Recombination|issue = 8|doi = 10.1016/j.semcdb.2011.07.010|pmid = 21802523|first = Rita|last = Colnaghi|first2 = Gillian|last2 = Carpenter|first3 = Marcel|last3 = Volker|first4 = Mark|last4 = O’Driscoll}}
4. ^{{cite journal |vauthors=Karn RC, Laukaitis CM |title=The mechanism of expansion and the volatility it created in three pheromone gene clusters in the mouse (Mus musculus) genome |journal=Genome Biol Evol |volume=1 |issue= |pages=494–503 |year=2009 |pmid=20333217 |pmc=2839280 |doi=10.1093/gbe/evp049 |url=}}
5. ^¹{{Citation | last = Hurles | first = Matthew| contribution = Recombination Hotspots in Nonallelic Homologous Recombination | title = Genomic Disorders: The Genomic Basis of Disease | pages = 341–355 | publisher = Humana Press | year = 2006 | contribution-url = http://www.springerlink.com/content/um222230u28p1719/ |display-authors=etal}}
6. ^{{cite journal |vauthors=Venturin M, Gervasini C, Orzan F, etal |title=Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions |journal=Hum. Genet. |volume=115 |issue=1 |pages=69–80 |date=June 2004 |pmid=15103551 |doi=10.1007/s00439-004-1101-2 |url=}}
7. ^{{cite journal |vauthors=Koolen DA, Sharp AJ, Hurst JA, etal |title=Clinical and molecular delineation of the 17q21.31 microdeletion syndrome |journal=J. Med. Genet. |volume=45 |issue=11 |pages=710–20 |date=November 2008 |pmid=18628315 |doi=10.1136/jmg.2008.058701 |url= |pmc=3071570}}
8. ^{{cite journal |vauthors=Willatt L, Cox J, Barber J, etal |title=3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome |journal=Am. J. Hum. Genet. |volume=77 |issue=1 |pages=154–60 |date=July 2005 |pmid=15918153 |pmc=1226188 |doi=10.1086/431653 |url=}}