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Consequences of aneuploidy in human fibroblasts

ABSTRACT: To characterize aneuploidy driven phenotypes in human trisomies, we performed global transcriptome, proteome, and phenotypic analysis of primary human fibroblasts from individuals with Patau (trisomy 13), Edwards (trisomy 18), or Down syndromes.

INSTRUMENT(S): Orbitrap Fusion

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Noah Dephoure

PROVIDER: MSV000085706 | MassIVE | Thu Jul 09 11:14:00 BST 2020

REPOSITORIES: MassIVE

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Consequences of aneuploidy in human fibroblasts with trisomy 21.

Hwang Sunyoung S Cavaliere Paola P Li Rui R Zhu Lihua Julie LJ Dephoure Noah N Torres Eduardo M EM

Proceedings of the National Academy of Sciences of the United States of America 20210201 6

An extra copy of chromosome 21 causes Down syndrome, the most common genetic disease in humans. The mechanisms contributing to aneuploidy-related pathologies in this syndrome, independent of the identity of the triplicated genes, are not well defined. To characterize aneuploidy-driven phenotypes in trisomy 21 cells, we performed global transcriptome, proteome, and phenotypic analyses of primary human fibroblasts from individuals with Patau (trisomy 13), Edwards (trisomy 18), or Down syndromes. O ...[more]

PMID: 33526671

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2006-03-06 | E-GEOD-4353 | biostudies-arrayexpress

Genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome

Project description:Abstract: BACKGROUND: Androgen insensitivity syndrome (AIS) comprises a range of phenotypes from male infertility to complete feminization. Most individuals with AIS carry germline mutations of the androgen receptor (AR) that interfere with or ablate its function. As genital fibroblasts retain expression of the AR in vitro, we used genital skin fibroblasts from normal males and 46,XY females with complete AIS due to known AR mutations to gain insights into the role of the AR in human genital differentiation. RESULTS: Using DNA microarrays representing 32,968 different genes, we identified 404 transcripts with significant differences in transcription levels between genital skin fibroblasts cultured from normal and AIS-affected individuals. Gene-cluster analyses uncovered coordinated expression of genes involved in key processes of morphogenesis. On the basis of animal studies and human genetic syndromes, several of these genes are known to have specific roles in genital differentiation. Remarkably, genital fibroblasts from both normal and AIS-affected individuals showed no transcriptional response to dihydrotestosterone treatment despite expression of the AR. CONCLUSIONS: The results suggest that in addition to differences in the anatomic origin of the cells, androgen signaling during prenatal development contributes to setting long-lasting, androgen-independent transcriptional programs in genital fibroblasts. Our findings have broad implications in understanding the establishment and the stability of sexual dimorphism in human genital development. This SuperSeries is composed of the SubSeries listed below.

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Microarray expression data from three arterial tortuosity syndrome (ATS) patients' skin fibroblasts with recessive SLC2A10 mutations

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Project description:Consequences of aneuploidy in human fibroblasts with trisomy 21

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