Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome
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Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s) in the establishment of Turner syndrome phenotypes.
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There is evidence of a unique and tissue-specific genome-wide methylation and transcription landscape in TS extending to both the X chromosome and the autosomes.
“There is evidence of a unique and tissue-specific genome-wide methylation and transcription landscape in TS extending to both the X chromosome and the autosomes.103-109”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [104]
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A DNA Methylation Perspective on Infertility
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Sex-Related Effects on Cardiac Development and Disease
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Immunological Profile and Autoimmunity in Turner Syndrome
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Novel insights in Turner syndrome
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The multi-omic landscape of sex chromosome abnormalities: current status and future directions
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The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome
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Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research
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A second X chromosome improves cognition in aging male and female micePreprint
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Higher CNV Frequencies in Chromosome 14 of Girls With Turner Syndrome Phenotype
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Musculoskeletal Health in Premature Ovarian Insufficiency. Part Two: Bone
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Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review
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Aneuploidy: an important model system to understand salient aspects of functional genomics
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Skeletal Characteristics of Children and Adolescents with Turner Syndrome
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Functional and regulatory aspects of oxidative stress response in X monosomy
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Epigenetics: Future prospective in human disorders and therapeutics
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Turner Syndrome: An Update Review
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Non-coding rnas in Turner syndrome: a systematic review
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- Authors
- Rajpathak, S. N., Vellarikkal, S. K., Patowary, A., Scaria, V., Sivasubbu, S., & Deobagkar, D. D.
- Affiliations
- Savitribai Phule Pune University (IN)
- Institute of Genomics and Integrative Biology (IN)
- Corresponding author
- Scaria, Vinod
- Sivasubbu, Sridhar
- Deobagkar, Deepti D.
- ORCID
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2014-06-16
- Volume
- 9
- Issue
- 6
- Pages
- e100076
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC4059722
- OpenAlex
- W2165634796
- Cited by
- 51
- References
- 82
- Citations by year
- 2025: 2 · 2024: 4 · 2023: 5 · 2022: 9 · 2021: 4 · 2020: 5 · 2019: 4 · 2018: 4 · 2017: 6 · 2016: 4 · 2015: 4
- FWCI
- 3.06
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Funders
- Council of Scientific and Industrial Research, India (BSC0122)
- University Grants Commission
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Turner syndrome, monosomy X, transcriptome, differential gene expression, long non-coding RNA, long intergenic non-coding RNA, bone differentiation, glucose metabolism, gonad development, phenotypic variability
- MeSH terms
- Cells, Cultured, Female, Fibroblasts, Humans, Male, RNA, Messenger, Turner Syndrome, Biomarkers, Reverse Transcriptase Polymerase Chain Reaction, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling, Genes, X-Linked, Transcriptome, Real-Time Polymerase Chain Reaction, RNA, Long Noncoding
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