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Genome-wide analysis of SHOX targets in NHDF cells expressing SHOX WT vs SHOX HM mutant

ABSTRACT: Genome-wide analysis of SHOX targets in NHDF cells expressing SHOX WT vs SHOX HM mutant

PROVIDER: PRJNA717783 | ENA |

REPOSITORIES: ENA

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Genome-wide analysis of SHOX targets in NHDF cells expressing SHOX WT vs SHOX HM mutant

Project description:To elucidate the underlying molecular mechanisms and to better understand the broad phenotypic spectrum of SHOX deficiency, we aimed to identify novel SHOX targets. We analyzed differentially expressed genes in SHOX-overexpressing human fibroblasts (NHDF)

2021-06-01 | GSE169732 | GEO

Expression profiles of wildtype and SHOX transgenic embryonic mouse limbs

Project description:Deficiency of the human short stature homeobox-containing gene (SHOX) has been identified in several disorders characterized by reduced height and skeletal anomalies such as Turner, Leri-Weill and Langer syndrome as well as idiopathic short stature. Although highly conserved in vertebrates, rodents lack a SHOX orthologue. Here, we compared gene expression profiles of wildtype and SHOX transgenic mouse limbs using microarray experiments to identify SHOX target genes in the developing limb. Limbs of E12.5 mouse embryos were dissected, fore- and hindlimbs were pooled and genotyped for RNA extraction. RNA from 2 to 4 littermates was pooled per genotype (Wildtype and SHOX transgene) and compared. In total, 2 microarray hybridization experiments were performed using RNA from 2 biological replicate samples for each genotype.

2014-08-13 | E-GEOD-47902 | biostudies-arrayexpress

Expression profiles of wildtype and SHOX transgenic embryonic mouse limbs

2014-08-13 | GSE47902 | GEO

Expression data from Hm mutant

Project description:Mouse Hammer toe (Hm) shows syndactyly. To reveal the molecular mechanisms of Hm phenotype, we performed microarray analysis to search differencially expressed genes in Hm limb.

2017-10-20 | GSE98424 | GEO

Profiling of upstream enhancers of SHOX in idiopathic short stature and functional characterization of the cis-regulatory landscape of SHOX

Project description:SHOX mutations and deletions of the downstream regulatory region have been reported in cases with idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Recently, a deletion and duplication of upstream enhancers have been described in ISS. Here, we aimed to evaluate the contribution of upstream copy number variations (CNVs) to the pathogenesis of ISS, to validate the enhancer role of the upstream enhancers in human cells, and to characterize the chromatin architecture of the cis-regulatory landscape of SHOX. CNV analysis of three upstream conserved non-coding elements (CNEs), CNE-5, CNE-3 and CNE-2, in 501 ISS referrals with no established molecular diagnosis revealed two deletions and one duplication. Enhancer activity of the upstream CNEs was corroborated by luciferase assays in human osteosarcoma U2OS cells. In addition, all three CNEs overlap with reported H3K27ac ChIP-seq marks in human embryonic limb buds. To characterize the chromatin interaction profile of the SHOX region, chromosome conformation capture (4C-seq) was performed in chicken embryo limb buds and in U2OS cells, revealing interactions of the upstream CNEs with the SHOX promoter. Moreover, the 4C-seq interaction maps and H3K27ac marks indicated that the cis-regulatory landscape of SHOX encompasses 1 Mb, suggesting additional cis-regulatory elements controlling SHOX.In conclusion, we showed that upstream CNVs of SHOX are rare in ISS and have incomplete penetrance. Chromatin interaction maps, luciferase assays and H3K27ac marks further support an enhancer function for the upstream CNEs. Finally, we demonstrated that the cis-regulatory landscape of SHOX is larger than previously anticipated potentially harboring novel cis-regulatory elements, which may be involved in the pathogenesis of molecularly unsolved ISS cases..

2016-06-16 | GSE65959 | GEO

NHDF Cells (Normal Human Dermal Fibroblasts): Control (unstimulated fibroblasts) vs. Borrelia infected cells

Project description:Transcriptional profiling of NHDF Cells comparing control untreated fibroblasts with fibroblasts coincubated with three different species of the Borrelia burgdorferi sensu lato group.

2016-05-22 | GSE77058 | GEO

Bradyrhizobium japonicum_Bacteroids vs. Bacteria grown in HM-Arabinose

Project description:A transcriptomic analysis of bacteroids isolated from soybean plants inoculated with B. japonicum USDA 110, relative to cells cultured in HM-arabinose medium was performed and the results combined with two other transcriptomic analyses to form a reiterated pool of transcripts that define genes essential for symbiotic nitrogen fixation.

2014-11-01 | GSE60279 | GEO

Mycobacterium tuberculosis HM strain:HM

Project description:Mycobacterium tuberculosis HM strain:HM Genome sequencing and assembly

| PRJNA230410 | ENA

Photorhabdus temperata strain:Hm | isolate:Hm

Project description:Photorhabdus temperata strain:Hm | isolate:Hm Genome sequencing and assembly

| PRJNA282823 | ENA

Heterozygous deletion of the SHOX gene enhancer in two females with clinical heterogeneity associating with skewed XCI and escaping XCI

Project description:Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI–escaping gene SHOX regulation is unclear. Here, we focused on a heterozygous deletion of SHOX gene enhancer with clinical heterogeneity. Using SNP array, we detected that the female proband with Leri-Weill dyschondrosteosis (LWD) carried an 857 kb deletion on Xp22.3 (encompassing SHOX enhancer) and a 5,707 kb large-fragment deletion on Xq25q26. XCI analysis revealed that the X-chromosome with the Xq25q26 large-fragment deletion was completely inactivated, which forced the complete activation of the other X-chromosome carrying SHOX enhancer deletion. While the Xp22.3 deletion locates on the escaping XCI region, under the combined action of skewed XCI and escaping XCI, transcription of SHOX gene was mainly from the activated X-chromosome with SHOX enhancer defect, involving in the formation of LWD phenotype. Interestingly, this SHOX enhancer deletion was inherited from her healthy mother, who also demonstrated completely skewed XCI. However, the X-chromosome with SHOX enhancer deletion was inactivated, and the normal X-chromosome was activated. Combing with escaping XCI, her phenotype was almost normal. In summary, this study was a rare report of SHOX gene enhancer deletion in a family with clinical heterogeneity due to skewed inactivation of different X-chromosomes, which can help in the genetic counseling and prenatal diagnosis of disorders in females with SHOX defect.

2019-10-08 | GSE138489 | GEO

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