title: Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.
abstract: 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.
authors.affiliation: Centre of Advanced Studies, Department of Zoology, University of Pune, Pune, India.
authors.forename: Shriram N
authors.initials: SN
authors.lastname: Rajpathak
authors.affiliation: Genomics and Molecular medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi, India.
authors.forename: Shamsudheen Karuthedath
authors.initials: SK
authors.lastname: Vellarikkal
authors.affiliation: GN Ramachandran Knowledge Centre for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors.forename: Ashok
authors.initials: A
authors.lastname: Patowary
authors.affiliation: GN Ramachandran Knowledge Centre for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi, India.
authors.forename: Vinod
authors.initials: V
authors.lastname: Scaria
authors.affiliation: Genomics and Molecular medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi, India.
authors.forename: Sridhar
authors.initials: S
authors.lastname: Sivasubbu
authors.affiliation: Centre of Advanced Studies, Department of Zoology, University of Pune, Pune, India.
authors.forename: Deepti D
authors.initials: DD
authors.lastname: Deobagkar
mesh_terms: D015415:Biomarkers / Q000378:metabolism*; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D020869:Gene Expression Profiling; D050172:Genes, X-Linked; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D062085:RNA, Long Noncoding / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D059467:Transcriptome / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D015415:Biomarkers; D062085:RNA, Long Noncoding; D012333:RNA, Messenger