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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

Genomic analysis of BR-6.(A) G-banding karyotype; (B) Copy number (above) and SNP (below) array profiles of all chromosomes from BR6, showing that neither aneuploidies nor large homozigous segments are present; (C) Detailed data of copy number (above) and SNP (below) array profiles of chromosome 14, showing no copy number alterations and heterozigosity of several SNPs throughout the chromosome, ruling out duplication of that chromosome.
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pone.0140999.g003: Genomic analysis of BR-6.(A) G-banding karyotype; (B) Copy number (above) and SNP (below) array profiles of all chromosomes from BR6, showing that neither aneuploidies nor large homozigous segments are present; (C) Detailed data of copy number (above) and SNP (below) array profiles of chromosome 14, showing no copy number alterations and heterozigosity of several SNPs throughout the chromosome, ruling out duplication of that chromosome.

Mentions: Standard G-banding karyotype of 50 metaphases of BR-6 revealed a normal 46,XX chromosomal constitution, without any indication of gain or loss of chromosome segments (Fig 3A). More detailed analysis of the chromosomal content of BR-6 was performed by array-CGH analysis, which confirmed a normal chromosome balance in this line of hESC (Fig 3B).


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)

Genomic analysis of BR-6.(A) G-banding karyotype; (B) Copy number (above) and SNP (below) array profiles of all chromosomes from BR6, showing that neither aneuploidies nor large homozigous segments are present; (C) Detailed data of copy number (above) and SNP (below) array profiles of chromosome 14, showing no copy number alterations and heterozigosity of several SNPs throughout the chromosome, ruling out duplication of that chromosome.
© Copyright Policy
Related In: Results  -  Collection

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

pone.0140999.g003: Genomic analysis of BR-6.(A) G-banding karyotype; (B) Copy number (above) and SNP (below) array profiles of all chromosomes from BR6, showing that neither aneuploidies nor large homozigous segments are present; (C) Detailed data of copy number (above) and SNP (below) array profiles of chromosome 14, showing no copy number alterations and heterozigosity of several SNPs throughout the chromosome, ruling out duplication of that chromosome.
Mentions: Standard G-banding karyotype of 50 metaphases of BR-6 revealed a normal 46,XX chromosomal constitution, without any indication of gain or loss of chromosome segments (Fig 3A). More detailed analysis of the chromosomal content of BR-6 was performed by array-CGH analysis, which confirmed a normal chromosome balance in this line of hESC (Fig 3B).

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