Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA241371 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR1195590_1.fastq.gz | Fastqsanger.gz | |||
| SRR1195590_2.fastq.gz | Fastqsanger.gz | |||
| SRR1195600_1.fastq.gz | Fastqsanger.gz | |||
| SRR1195600_2.fastq.gz | Fastqsanger.gz | |||
| SRR1195591_1.fastq.gz | Fastqsanger.gz |
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Project description:Induced pluripotent stem cells (iPSCs) offer opportunity for insight into the genetic requirements of the X chromosome for somatic and germline development. Turner syndrome is caused by complete or partial loss of the second sex chromosome; while more than 90% of Turner cases result in spontaneous fetal loss, survivors display an array of somatic and germline clinical characteristics. Here, we derived iPSCs from Turner syndrome and control individuals and examined germ cell development as a function of X chromosome composition. We analyzed gene expression profiles of derived iPSCs and in vitro differentiated cells by single cell qRT-PCR and RNA-seq. We whoed that two X chromosomes are not necessary for reprogramming or pluripotency maintenance. Genes that escape X chromosome inactivation (XCI) between control iPSCs and those with X chromosome aneuploidies revealed minimal expression differences relative to a female hESC line. Moreover, when we induced germ cell differentiation via murine xenotransplantation of iPSC lines into the seminiferous tubules of busulfan-treated mice, we observed that undifferentiated iPSCs, independent of X chromosome composition, when placed within the correct somatic environment, are capable of forming early germ cells in vivo. Results indicate that two intact X chromosomes are not required for germ cell formation; however, clinical data suggest that two sex chromosomes are required for maintenance of human germ cells. RNA-seq of H9 cells, iPSCs from Turner syndrome and control individuals and in vitro differentiated cells
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Project description:Induced pluripotent stem cells (iPSCs) offer opportunity for insight into the genetic requirements of the X chromosome for somatic and germline development. Turner syndrome is caused by complete or partial loss of the second sex chromosome; while more than 90% of Turner cases result in spontaneous fetal loss, survivors display an array of somatic and germline clinical characteristics. Here, we derived iPSCs from Turner syndrome and control individuals and examined germ cell development as a function of X chromosome composition. We analyzed gene expression profiles of derived iPSCs and in vitro differentiated cells by single cell qRT-PCR and RNA-seq. We whoed that two X chromosomes are not necessary for reprogramming or pluripotency maintenance. Genes that escape X chromosome inactivation (XCI) between control iPSCs and those with X chromosome aneuploidies revealed minimal expression differences relative to a female hESC line. Moreover, when we induced germ cell differentiation via murine xenotransplantation of iPSC lines into the seminiferous tubules of busulfan-treated mice, we observed that undifferentiated iPSCs, independent of X chromosome composition, when placed within the correct somatic environment, are capable of forming early germ cells in vivo. Results indicate that two intact X chromosomes are not required for germ cell formation; however, clinical data suggest that two sex chromosomes are required for maintenance of human germ cells.
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Project description:Male sex chromosome aneuploidies are frequent genetic aberrations in humans characterized by additional X or Y complements in the contest of a 46,XY karyotype. Among male aneuploidies, Klinefelter (KS) and Jacob Syndromes (JS), carrying 47,XXY and 47,XYY chromosomes, respectively, share several clinical features, including sterility, hormonal deficits, neurocognitive delay, and skeletal-muscle defects. In this study, we generated and characterized the inaugural cohort of 47,XYY human induced pluripotent stem cells (iPSCs). We profiled the transcriptome of fibroblasts, iPSCs, and iPSCs-derived neural stem cells (NSCs) to investigate the transcriptional consequences of Y chromosome overdosage across three different cell types. Our data defined subsets of genes sensitive to Y dosage that includes i) non-PAR Y-linked (NPY) genes shared among cell types, ii) genes residing on the X and Y pseudo-autosomal region 1 (PAR1), and iii) autosomal genes that display a mild degree of tissue-specificity. By comparing the expression and identity of PAR1 in KS and JS-derived cells, we confirmed their obligate dosage sensitivity to sex chromosome numbers in a cell type-dependent fashion, and we proved that PAR1 genes are differentially expressed from X and Y chromosomes. We also defined a shared transcriptional signature in X and Y aneuploidies, by comparing sex and autosomal dysregulated genes, that could explain the shared clinical manifestations in JS and KS patients. Furthermore, we demonstrated a regulatory function of NPY genes on their non-PAR homologs on the X chromosome (NPX). By mechanistically linking the expression of X and Y gene pairs, we revealed that NPY genes in overdosage negatively modulate in trans the transcription of their NPX homologs. Finally, we assessed the genome-wide methylation status in cells carrying Y aneuploidies and defined that the additional Y chromosome does not dramatically alter the global DNA methylation status. Our findings expand the knowledge on X and Y chromosome cross-modulation and impact on human gene expression, and suggest that disease modeling of sex aneuploidy through iPSCs may provide an ideal platform for understanding the global effects of aneuploidies in disease-relevant cell types.
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