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A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo.

Fonseca SA, Costas RM, Morato-Marques M, Costa S, Alegretti JR, Rosenberg C, da Motta EL, Serafini PC, Pereira LV - PLoS ONE (2015)

Bottom Line: However, FISH-based PGS can have a significant rate of misdiagnosis, and therefore some of those lines may have been derived from euploid embryos misdiagnosed as aneuploid.We show that, despite the complex chromosomal abnormality, the corresponding hESC line BR-6 is euploid (46,XX).Single nucleotide polymorphism analysis showed that the embryo´s missing chromosomes were not duplicated in BR-6, suggesting the existence of extensive mosaicism in the TE lineage.

View Article: PubMed Central - PubMed

Affiliation: National Laboratory of Embryonic Stem Cell (LaNCE), University of São Paulo, São Paulo, Brazil.

ABSTRACT
Aneuploid embryos diagnosed by FISH-based preimplantation genetic screening (PGS) have been shown to yield euploid lines of human embryonic stem cells (hESCs) with a relatively high frequency. Given that the diagnostic procedure is usually based on the analysis of 1-2 blastomeres of 5 to 10-cell cleavage-stage embryos, mosaicism has been a likely explanation for the phenomena. However, FISH-based PGS can have a significant rate of misdiagnosis, and therefore some of those lines may have been derived from euploid embryos misdiagnosed as aneuploid. More recently, coupling of trophectoderm (TE) biopsy at the blastocyst stage and array-CGH lead to a more informative form of PGS. Here we describe the establishment of a new line of hESCs from an embryo with a 43,XX,dup(9q),+12,-14,-15,-18,-21 chromosomal content based on array-CGH of TE biopsy. We show that, despite the complex chromosomal abnormality, the corresponding hESC line BR-6 is euploid (46,XX). Single nucleotide polymorphism analysis showed that the embryo´s missing chromosomes were not duplicated in BR-6, suggesting the existence of extensive mosaicism in the TE lineage.

No MeSH data available.


Related in: MedlinePlus

Array-CGH analysis of TE biopsy from embryo 1.Arrows point to the regions of aneuploidy. Increased X and decreased Y signals are due to the use of 46,XY control DNA.
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pone.0140999.g001: Array-CGH analysis of TE biopsy from embryo 1.Arrows point to the regions of aneuploidy. Increased X and decreased Y signals are due to the use of 46,XY control DNA.

Mentions: Array-CGH analysis identified 20 aneuploid embryos that were subsequently donated for hESC line derivation. Following thawing, all embryos were cultured overnight. Ten embryos degenerated, and the remaining 10 were used for hESC derivation under defined xeno-free culture condition (Table 1, Fig 1). Two embryos (embryos 1 and 10) attached to the culture plate and presented cell growth. From these, despite its complex aneuploidy, only embryo 1 gave rise to a new line of hESC, named BR-6 (Fig 1). This rate of derivation, although relatively low, was similar to those obtained by our group with euploid embryos [24, 25].


A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo.

Fonseca SA, Costas RM, Morato-Marques M, Costa S, Alegretti JR, Rosenberg C, da Motta EL, Serafini PC, Pereira LV - PLoS ONE (2015)

Array-CGH analysis of TE biopsy from embryo 1.Arrows point to the regions of aneuploidy. Increased X and decreased Y signals are due to the use of 46,XY control DNA.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4634922&req=5

pone.0140999.g001: Array-CGH analysis of TE biopsy from embryo 1.Arrows point to the regions of aneuploidy. Increased X and decreased Y signals are due to the use of 46,XY control DNA.
Mentions: Array-CGH analysis identified 20 aneuploid embryos that were subsequently donated for hESC line derivation. Following thawing, all embryos were cultured overnight. Ten embryos degenerated, and the remaining 10 were used for hESC derivation under defined xeno-free culture condition (Table 1, Fig 1). Two embryos (embryos 1 and 10) attached to the culture plate and presented cell growth. From these, despite its complex aneuploidy, only embryo 1 gave rise to a new line of hESC, named BR-6 (Fig 1). This rate of derivation, although relatively low, was similar to those obtained by our group with euploid embryos [24, 25].

Bottom Line: However, FISH-based PGS can have a significant rate of misdiagnosis, and therefore some of those lines may have been derived from euploid embryos misdiagnosed as aneuploid.We show that, despite the complex chromosomal abnormality, the corresponding hESC line BR-6 is euploid (46,XX).Single nucleotide polymorphism analysis showed that the embryo´s missing chromosomes were not duplicated in BR-6, suggesting the existence of extensive mosaicism in the TE lineage.

View Article: PubMed Central - PubMed

Affiliation: National Laboratory of Embryonic Stem Cell (LaNCE), University of São Paulo, São Paulo, Brazil.

ABSTRACT
Aneuploid embryos diagnosed by FISH-based preimplantation genetic screening (PGS) have been shown to yield euploid lines of human embryonic stem cells (hESCs) with a relatively high frequency. Given that the diagnostic procedure is usually based on the analysis of 1-2 blastomeres of 5 to 10-cell cleavage-stage embryos, mosaicism has been a likely explanation for the phenomena. However, FISH-based PGS can have a significant rate of misdiagnosis, and therefore some of those lines may have been derived from euploid embryos misdiagnosed as aneuploid. More recently, coupling of trophectoderm (TE) biopsy at the blastocyst stage and array-CGH lead to a more informative form of PGS. Here we describe the establishment of a new line of hESCs from an embryo with a 43,XX,dup(9q),+12,-14,-15,-18,-21 chromosomal content based on array-CGH of TE biopsy. We show that, despite the complex chromosomal abnormality, the corresponding hESC line BR-6 is euploid (46,XX). Single nucleotide polymorphism analysis showed that the embryo´s missing chromosomes were not duplicated in BR-6, suggesting the existence of extensive mosaicism in the TE lineage.

No MeSH data available.


Related in: MedlinePlus