Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Xu, Jiawei ^a   Zhang, Meixiang ^a   Niu, Wenbin ^a   Yao, Guidong ^a   Sun, Bo ^a   Bao, Xiao ^a   Wang, Linlin ^a   Du, Linqing ^a   Sun, Yingpu ^a  

^a ZHENGZHOU UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ABNORMALITIES; ADULT; BLOOD; DIAGNOSIS; DNA MICROARRAY; FEMALE; GENETICS; GENOME IMPRINTING; HUMAN; HUMAN GENOME; MALE; MAMMALIAN EMBRYO; MIDDLE AGED; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; X CHROMOSOME; Y CHROMOSOME;

ADULT; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; DNA; EMBRYO, MAMMALIAN; FEMALE; GENOME, HUMAN; GENOMIC IMPRINTING; HUMANS; MALE; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; UNIPARENTAL DISOMY;

EID: 84937459432     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep12302     Document Type: Article

References (27)

1. Engel, E. A new genetic concept: the uniparental disomy and its potential effect, the isodisomy. Journal de genetique humaine 28, 11-22 (1980).
2. Berend, S. A. et al. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am. J. Med. Genet. 82, 275-281 (1999).
3. Robinson, W. P. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22, 452-459 (2000).
4. Sasaki, K. et al. Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations. Gene 512, 267-274 (2013).
5. Munne, S. et al. Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertil. Steril. 84, 1328-1334 (2005).
6. Li, M. et al. Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3. Fertil. Steril. 84, 1395-1400 (2005).
7. Fragouli, E. et al. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum. Reprod. 23, 2596-2608 (2008).
8. Barbash-Hazan, S. et al. Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertil. Steril. 92, 890-896 (2009).
9. Northrop, L. E. et al. SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol. Hum. Reprod. 16, 590-600, (2010).
10. Gueye, N. A. et al. Uniparental disomy in the human blastocyst is exceedingly rare. Fertil. Steril. 101, 232-236 (2014).
11. Daphnis, D. D. et al. Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH. Mol. Hum. Reprod. 14, 117-125 (2008).
12. Wells, D., Alfarawati, S. & Fragouli, E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol. Hum. Reprod. 14, 703-710 (2008).
13. Bielanska, M., Tan, S. L. & Ao, A. Chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome. Hum. Reprod. 17, 413-419 (2002).
14. Vanneste, E. et al. Chromosome instability is common in human cleavage-stage embryos. Nat. Med. 15, 577-583 (2009).
15. Treff, N. R. et al. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol. Hum. Reprod. 16, 583-589 (2010).
16. Rabinowitz, M. et al. Origins and rates of aneuploidy in human blastomeres. Fertil. Steril. 97, 395-401 (2012).
17. Duester, G. Retinoic acid synthesis and signaling during early organogenesis. Cell 134, 921-931 (2008).
18. Yao, J. et al. Overexpression of BLCAP induces S phase arrest and apoptosis independent of p53 and NF-kappaB in human tongue carcinoma : BLCAP overexpression induces S phase arrest and apoptosis. Mol. Cell. Biochem. 297, 81-92 (2007).
19. Joseph, R. M. Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss. Genomics 103, 183-188 (2014).
20. Perez, B. et al. Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. Mol. Genet. Metab. 105, 270-271 (2012).
21. Kariminejad, A. et al. Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. Eur. J. Hum. Genet. 19, 555-560 (2011).
22. Al Adhami, H. et al. A systems-level approach to parental genomic imprinting: the imprinted gene network includes extracellular matrix genes and regulates cell cycle exit and differentiation. Genome Res 25(3): 353-367 (2015).
23. Peters, J. The role of genomic imprinting in biology and disease: an expanding view. Nat Rev Genet 15, 517-530 (2014).
24. Schroeder, C. et al. Genome-wide UPD screening in patients with intellectual disability. Eur. J. Hum. Genet 22, 1233-1235 (2014).
25. Amor, D. J. & Halliday, J. A review of known imprinting syndromes and their association with assisted reproduction technologies. Hum. Reprod. 23, 2826-2834 (2008).
26. Sahoo, T. et al. Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements. Eur. J. Hum. Genet 23, 61-66 (2014).
27. Li, G. et al. Increased IVF pregnancy rates after microarray preimplantation genetic diagnosis due to parental translocations. Syst. Biol. Reprod. Med. 60, 119-124 (2014).