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Haplodeficiency of the 9p21 Tumor Suppressor Locus Causes Myeloid Disorders Driven by Bone Marrow Microenvironment

ABSTRACT: Haplodeficiency of the 9p21 Tumor Suppressor Locus Causes Myeloid Disorders Driven by Bone Marrow Microenvironment

PROVIDER: PRJNA872106 | ENA |

REPOSITORIES: ENA

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Haplodeficiency of the 9p21 Tumor Suppressor Locus Causes Myeloid Disorders Driven by Bone Marrow Microenvironment

Project description:The chromosome 9p21 locus comprises several tumor suppressor genes including MTAP, CDKN2A and CDKN2B, and its homo- or heterozygous deletions are associated with reduced survival in multiple cancer types. We report that mice with germline monoallelic deletion or induced biallelic deletion of the 9p21-syntenic locus (9p21s) developed fatal myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN)-like disease associated with aberrant trabecular bone formation and/or fibrosis in the bone marrow (BM). Reciprocal BM transfers and conditional targeting of 9p21s suggested that the disease originates in the BM stroma. Single-cell analysis of 9p21s-deficient BM stroma revealed the expansion of chondrocyte and osteogenic precursors, reflected in increased osteogenic differentiation in vitro. It also showed reduced expression of factors maintaining hematopoietic stem/progenitor cells, including Cxcl12. Accordingly, 9p21s-deficient mice showed reduced levels of circulating Cxcl12 and a concomitant upregulation of the pro-fibrotic chemokine Cxcl13. Our study highlights the potential of mutations in the BM microenvironment to drive MDS/MPN-like disease. We then performed gene expression profiling analysis using data obtained from RNA-seq of 4 different cells at two time points.

2023-06-06 | GSE211779 | GEO

miR-876 is a tumor suppressor on 9p21 that is inactivated in melanoma and targets ERK

Project description:While melanomas commonly harbor losses of 9p21, on which CDKN2A resides, the presence of additional tumor suppressor elements at this locus is incompletely characterized. Here we assess the expression levels and functional role of microRNA-876 (miR-876), whose gene also maps to 9p21.

2024-08-21 | GSE267789 | GEO

miR-876 is a tumor suppressor on 9p21 that is inactivated in melanoma and targets ERK

Project description:miR-876 is a tumor suppressor on 9p21 that is inactivated in melanoma and targets ERK

| PRJNA1112873 | ENA

4C analysis of 9p21 interaction network in HEK TE cells

Project description:4C was performed to identify genomic loci interacting with the 9P21 locus. Subsequently, the effect on cell transformation was furhter investigated upon knockdown/overexpression of the selected candidate targets.

2019-08-13 | GSE135715 | GEO

Genetic Causes of Growth Disorders

Project description:Genetic Causes of Growth Disorders

| PRJNA474782 | ENA

Genetic Causes of Growth Disorders

Project description:Genetic Causes of Growth Disorders

| PRJNA474783 | ENA

Differential mRNA expression upon 9p21 deletion in HEK TE single-cell derived clones

Project description:RNA sequencing was performed to identify mRNAs that are dysregulated upon loss of 9p21. Subsequently, the effect on cell transformation was investigated upon knockdown/overexpression of the candidate targets found from the RNA sequencing analysis .

2019-08-13 | GSE135716 | GEO

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Project description:Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

| PRJNA1031622 | ENA

4C analysis of 9p21 interaction network in HEK TE cells

Project description:4C analysis of 9p21 interaction network in HEK TE cells

| PRJNA559841 | ENA

Variants at the 9p21 locus and melanoma risk.

Project description:BACKGROUND: The influence of variants at the 9p21 locus on melanoma risk has been reported through investigation of CDKN2A variants through candidate gene approach as well as by genome wide association studies (GWAS). METHODS: In the present study we genotyped, 25 SNPs that tag 273 variants on chromosome 9p21 in 837 melanoma cases and 1154 controls from Spain. Ten SNPs were selected based on previous associations, reported in GWAS, with either melanocytic nevi or melanoma risk or both. The other 15 SNPs were selected to fine map the CDKN2A gene region. RESULTS: All the 10 variants selected from the GWAS showed statistically significant association with melanoma risk. Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3' UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04). Interaction analysis between risk associated polymorphisms and previously genotyped MC1R variants, in the present study, did not show any statistically significant association. Statistical significant association was observed for the interaction between phototypes and the rs10811629 (located in intron 5 of MTAP). The strongest association was observed between the homozygous carrier of the A-allele and phototype II with an OR of 15.93 (95% CI 5.34-47.54). CONCLUSIONS: Our data confirmed the association of different variants at chromosome 9p21 with melanoma risk and we also found an association of a variant with skin phototypes.

| S-EPMC3702420 | biostudies-literature

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