Regulation of WNT16 in bone may involve upstream enhancers within CPED1

被引：0

作者：

Martinez-Gil, N. ^{[1
,4
,5
,6
]}

Herrera-Ubeda, C. ^{[1
,4
]}

Gritti, N. ^{[2
]}

Roca-Ayats, N. ^{[1
,4
,5
,6
]}

Ugartondo, N. ^{[1
,4
,5
,6
]}

Garcia-Giralt, N. ^{[1
,3
]}

Ovejero, D. ^{[3
]}

Nogues, X. ^{[3
]}

Garcia-Fernandez, J. ^{[1
,4
]}

Grinberg, Daniel ^{[1
,4
,5
,6
]}

Balcells, Susanna ^{[1
,4
,5
,6
]}

机构：

[1] Univ Barcelona, Fac Biol, Dept Genet Microbiol & Stat, Barcelona, Spain

[2] European Mol Biol Lab EMBL Barcelona, Barcelona 08003, Spain

[3] Hosp del Mar Res Inst, ISCIII, Ctr Invest Biomed Red Fragil & Envejecimiento Salu, Musculoskeletal Res Grp, Barcelona, Spain

[4] Univ Barcelona, Inst Biomed IBUB, Barcelona, Spain

[5] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain

[6] Inst Recerca St Joan de Deu IRSJD, Barcelona, Spain

来源：

SCIENTIFIC REPORTS | 2025年 / 15卷 / 01期

关键词：

Wnt pathway; Osteoblasts; Genetic research; Regulatory elements; GENOME-WIDE ASSOCIATION; MINERAL DENSITY; LOCI; METAANALYSIS; MASS; VISUALIZATION; SEQUENCE; ASSAY; GENE;

D O I：

10.1038/s41598-025-93259-z

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

WNT16 stands up as an essential gene for bone homeostasis. Here, we present new evidence of the functional role of a particular region within WNT16. Performing 4 C chromatin conformation analysis in three osteoblast-related cells (the human fetal osteoblast hFOB 1.19 cell line, Saos 2 osteosarcoma cell line and mesenchymal Stem Cells -MSC-), we identify physical interactions between the proximal part of WNT16 intron 2, shown here to be an active promoter in Saos 2 osteosarcoma cells, and several putative regulatory regions within CPED1. Analysis of previously published RNA-seq data from hFOB cells disclosed low expression of a region located downstream of this promoter. Our results suggest a novel regulatory mechanism of WNT16 in bone, mediated by physical interaction with various enhancer regions within CPED1.

引用

页数：9

共 5 条

[1] Role of WNT16 in the Regulation of Periosteal Bone Formation in Female Mice
Wergedal, Jon E.
Kesavan, Chandrasekhar
Brommage, Robert
Das, Subhashri
Mohan, Subburaman
ENDOCRINOLOGY, 2015, 156 (03) : 1023 - 1032
[2] Multiple Mechanisms Explain Genetic Effects at the CPED1-WNT16 Bone Mineral Density Locus
Gomez, Arianna Ericka
Addish, Sumaya
Alvarado, Kurtis
Boatemaa, Priscilla
Onyali, Anne C. C.
Ramirez, Emily G. G.
Rojas, Maria F. F.
Rai, Jyoti
Reynolds, Kiana A. A.
Tang, W. Joyce
Kwon, Ronald Young
CURRENT OSTEOPOROSIS REPORTS, 2023, 21 (02) : 173 - 183
[3] Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel Ultrasound Bone Stiffness: Analyses from the General Population and Patients Evaluated for Osteoporosis
Kragl, Angelique
Hannemann, Anke
Nauck, Matthias
Voelker, Uwe
Siggelkow, Heide
Teumer, Alexander
Tzvetkov, Mladen V.
CALCIFIED TISSUE INTERNATIONAL, 2023, 113 (05) : 540 - 551
[4] Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
Martinez-Gil, Nuria
Roca-Ayats, Neus
Monistrol-Mula, Anna
Garcia-Giralt, Natalia
Diez-Perez, Adolfo
Nogues, Xavier
Mellibovsky, Leonardo
Grinberg, Daniel
Balcells, Susana
SCIENTIFIC REPORTS, 2018, 8
[5] Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women
Koller, Daniel L.
Zheng, Hou-Feng
Karasik, David
Yerges-Armstrong, Laura
Liu, Ching-Ti
McGuigan, Fiona
Kemp, John P.
Giroux, Sylvie
Lai, Dongbing
Edenberg, Howard J.
Peacock, Munro
Czerwinski, Stefan A.
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Akesson, Kristina
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Mitchell, Braxton D.
Richards, J. Brent
Kiel, Douglas P.
Foroud, Tatiana
JOURNAL OF BONE AND MINERAL RESEARCH, 2013, 28 (03) : 547 - 558

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