Matches in SemOpenAlex for { <https://semopenalex.org/work/W2892121729> ?p ?o ?g. }
- W2892121729 abstract "Abstract: Low copy repeats (LCRs) are recognized as a significant source of genomic instability, driving genome variability and evolution. The chromosome 22 LCRs (LCR22s) are amongst the most complex regions in the genome and their structure remains unresolved. These LCR22s mediate non-allelic homologous recombination (NAHR) leading to the 22q11 deletion syndrome (22q11DS), causing the most frequent genomic disorder. Using fiber FISH optical mapping, we have de novo assembled the LCR22s in 33 cell lines. We observed a high level of variation in LCR22 structures, including 26 different haplotypes of LCR22A with alleles ranging from 250 Kb to over 2,000 Kb. An additional four haplotypes were detected using Bionano mapping. Further, Bionano maps generated from 154 individuals from different populations suggested significantly different LCR22 haplotype frequencies between populations. Furthermore, haplotype analysis in nine 22q11DS patients resulted in the localization of the NAHR site to a 160 Kb paralog between LCR22A and –D in seven patients and to a 31 Kb region in two individuals with a rearrangement between LCR22A and –B.. This 31 Kb region contains a palindromic AT-rich repeat known to be a driver of chromosomal rearrangements. Our study highlights an unprecedented level of polymorphism in the structure of LCR22s, which are likely still evolving. We present the most comprehensive map of LCR22 variation to date, paving the way towards investigating the role of LCR variation as a driver of 22q11 rearrangements and the phenotypic variability in 22q11DS patients as well as in the general population." @default.
- W2892121729 created "2018-09-27" @default.
- W2892121729 creator A5018358547 @default.
- W2892121729 creator A5022617562 @default.
- W2892121729 creator A5023255205 @default.
- W2892121729 creator A5024036416 @default.
- W2892121729 creator A5025205508 @default.
- W2892121729 creator A5029381108 @default.
- W2892121729 creator A5030246520 @default.
- W2892121729 creator A5041881006 @default.
- W2892121729 creator A5042183876 @default.
- W2892121729 creator A5044774898 @default.
- W2892121729 creator A5046711633 @default.
- W2892121729 creator A5058337378 @default.
- W2892121729 creator A5074068566 @default.
- W2892121729 creator A5080555531 @default.
- W2892121729 creator A5084128810 @default.
- W2892121729 creator A5087297307 @default.
- W2892121729 creator A5088672980 @default.
- W2892121729 creator A5089698727 @default.
- W2892121729 date "2018-09-12" @default.
- W2892121729 modified "2023-09-28" @default.
- W2892121729 title "The 22q11 low copy repeats are characterized by unprecedented size and structure variability" @default.
- W2892121729 cites W1537291445 @default.
- W2892121729 cites W1971972795 @default.
- W2892121729 cites W1973067702 @default.
- W2892121729 cites W1985911270 @default.
- W2892121729 cites W1985991898 @default.
- W2892121729 cites W1997219424 @default.
- W2892121729 cites W2002438422 @default.
- W2892121729 cites W2003818007 @default.
- W2892121729 cites W2004567786 @default.
- W2892121729 cites W2005276393 @default.
- W2892121729 cites W2006895505 @default.
- W2892121729 cites W2007100755 @default.
- W2892121729 cites W2008677609 @default.
- W2892121729 cites W2009450264 @default.
- W2892121729 cites W2012026008 @default.
- W2892121729 cites W2013798014 @default.
- W2892121729 cites W2018838463 @default.
- W2892121729 cites W2023068424 @default.
- W2892121729 cites W2045040686 @default.
- W2892121729 cites W2049323804 @default.
- W2892121729 cites W2051584943 @default.
- W2892121729 cites W2051587603 @default.
- W2892121729 cites W2052714004 @default.
- W2892121729 cites W2060392690 @default.
- W2892121729 cites W2060485452 @default.
- W2892121729 cites W2066918107 @default.
- W2892121729 cites W2084521362 @default.
- W2892121729 cites W2090705041 @default.
- W2892121729 cites W2091548199 @default.
- W2892121729 cites W2097000949 @default.
- W2892121729 cites W2098076755 @default.
- W2892121729 cites W2101886165 @default.
- W2892121729 cites W2102552504 @default.
- W2892121729 cites W2110334080 @default.
- W2892121729 cites W2119279196 @default.
- W2892121729 cites W2124429242 @default.
- W2892121729 cites W2126275521 @default.
- W2892121729 cites W2126969678 @default.
- W2892121729 cites W2131735467 @default.
- W2892121729 cites W2136509799 @default.
- W2892121729 cites W2145734187 @default.
- W2892121729 cites W2152156139 @default.
- W2892121729 cites W2163809592 @default.
- W2892121729 cites W2165554230 @default.
- W2892121729 cites W2167181815 @default.
- W2892121729 cites W2167898988 @default.
- W2892121729 cites W2169402180 @default.
- W2892121729 cites W2170612945 @default.
- W2892121729 cites W2172130283 @default.
- W2892121729 cites W2235791093 @default.
- W2892121729 cites W2253685848 @default.
- W2892121729 cites W2497235992 @default.
- W2892121729 cites W2507829835 @default.
- W2892121729 cites W2587990010 @default.
- W2892121729 cites W2612812586 @default.
- W2892121729 cites W2741030453 @default.
- W2892121729 cites W2790369438 @default.
- W2892121729 cites W2800120287 @default.
- W2892121729 cites W2951529834 @default.
- W2892121729 cites W2953263404 @default.
- W2892121729 cites W4238737563 @default.
- W2892121729 doi "https://doi.org/10.1101/403873" @default.
- W2892121729 hasPublicationYear "2018" @default.
- W2892121729 type Work @default.
- W2892121729 sameAs 2892121729 @default.
- W2892121729 citedByCount "6" @default.
- W2892121729 countsByYear W28921217292019 @default.
- W2892121729 countsByYear W28921217292020 @default.
- W2892121729 countsByYear W28921217292021 @default.
- W2892121729 countsByYear W28921217292023 @default.
- W2892121729 crossrefType "posted-content" @default.
- W2892121729 hasAuthorship W2892121729A5018358547 @default.
- W2892121729 hasAuthorship W2892121729A5022617562 @default.
- W2892121729 hasAuthorship W2892121729A5023255205 @default.
- W2892121729 hasAuthorship W2892121729A5024036416 @default.
- W2892121729 hasAuthorship W2892121729A5025205508 @default.
- W2892121729 hasAuthorship W2892121729A5029381108 @default.