Ma et al. reply

[...]we asked whether DNA proofreading and mismatch repair mechanisms involved in HDR could also contribute to the conversion of neighbouring neutral paternal SNPs resulting in loss-of-heterozygosity (LOH) within the MYBPC3 locus. Three embryos (WT4, WT5 and WT6) were heterozygous for all three SNPs...

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Veröffentlicht in:Nature (London) 2018-08, Vol.560 (7717), p.E10-2
Hauptverfasser: Ma, Hong, Liang, Dan, Suzuki, Keiichiro, Gu, Ying, Gong, Jianhui, Xu, Xun, Ahmed, Riffat, Lee, Yeonmi, Kang, Eunju, Ji, Dongmei, Park, A-Reum, Marti-Gutierrez, Nuria, Kim, Daesik, Kim, Sang-Tae, Heitner, Stephen B, Battaglia, David, Krieg, Sacha A, Lee, David M, Wu, Diana H, Wolf, Don P, Amato, Paula, Kaul, Sanjiv, Park, Sang-Wook, Belmonte, Juan Carlos Izpisua, Kim, Jin-Soo, Mitalipov, Shoukhrat, Wu, Jun, Hayama, Tomonari, Darby, Hayley, Dyken, Crystal Van, Li, Ying, Koski, Amy
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Sprache:eng
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Zusammenfassung:[...]we asked whether DNA proofreading and mismatch repair mechanisms involved in HDR could also contribute to the conversion of neighbouring neutral paternal SNPs resulting in loss-of-heterozygosity (LOH) within the MYBPC3 locus. Three embryos (WT4, WT5 and WT6) were heterozygous for all three SNPs, whereas both blastomeres examined from WT3 embryo were heterozygous at SNP #1 and #3 but homozygous at SNP #2 (Table 1 and Fig. 3). [...]this embryo was probably generated from the mutant sperm but subsequently corrected by HDR using the wild-type maternal allele. [...]six out of seven S-phase-injected mosaic embryos generated from the same parental combination were heterozygous A/G (Table 2). [...]we think it is possible that some of these G/G homozygous embryos in the M-phase-injected group also lost paternal SNPs owing to gene conversion. Similar results were obtained from non-injected controls and S-phase-injected embryos (extended data table 2 of the original study3). [...]SNP analyses provided in Tables 1 and 2 for WT/WT embryos in the M-phase-injected group clearly demonstrate retention of paternal SNPs.
ISSN:0028-0836
1476-4687
DOI:10.1038/s41586-018-0380-z