دورية أكاديمية
أعرض في EDS

Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition.

التفاصيل البيبلوغرافية
العنوان: Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition.
المؤلفون: Sarver DC; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States., Garcia-Diaz J; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, United States.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, United States.; Cell and Molecular Medicine graduate program, Johns Hopkins University School of Medicine, Baltimore, United States., Saqib M; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, United States.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, United States.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, United States., Wong GW; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States.
المصدر: ELife [Elife] 2024 Jan 19; Vol. 12. Date of Electronic Publication: 2024 Jan 19.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Cambridge, UK : eLife Sciences Publications, Ltd., 2012-
مواضيع طبية MeSH: Dwarfism*/genetics , Growth Hormone*/genetics , Growth Hormone*/metabolism, Animals ; Female ; Humans ; Male ; Mice ; Genome-Wide Association Study ; Insulin-Like Growth Factor I/genetics ; Insulin-Like Growth Factor I/metabolism ; Mice, Knockout ; Receptors, Somatotropin/genetics ; Receptors, Somatotropin/metabolism ; Membrane Proteins/genetics
مستخلص: Genome-wide association studies (GWAS) have identified a large number of candidate genes believed to affect longitudinal bone growth and bone mass. One of these candidate genes, TMEM263 , encodes a poorly characterized plasma membrane protein. Single nucleotide polymorphisms in TMEM263 are associated with bone mineral density in humans and mutations are associated with dwarfism in chicken and severe skeletal dysplasia in at least one human fetus. Whether this genotype-phenotype relationship is causal, however, remains unclear. Here, we determine whether and how TMEM263 is required for postnatal growth. Deletion of the Tmem263 gene in mice causes severe postnatal growth failure, proportional dwarfism, and impaired skeletal acquisition. Mice lacking Tmem263 show no differences in body weight within the first 2 weeks of postnatal life. However, by P21 there is a dramatic growth deficit due to a disrupted growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis, which is critical for longitudinal bone growth. Tmem263 -null mice have low circulating IGF-1 levels and pronounced reductions in bone mass and growth plate length. The low serum IGF-1 in Tmem263 -null mice is associated with reduced hepatic GH receptor (GHR) expression and GH-induced JAK2/STAT5 signaling. A deficit in GH signaling dramatically alters GH-regulated genes and feminizes the liver transcriptome of Tmem263-null male mice, with their expression profile resembling wild-type female, hypophysectomized male, and Stat5b-null male mice. Collectively, our data validates the causal role for Tmem263 in regulating postnatal growth and raises the possibility that rare mutations or variants of TMEM263 may potentially cause GH insensitivity and impair linear growth.
Competing Interests: DS, JG, MS, RR, GW No competing interests declared
(© 2023, Sarver et al.)
التعليقات: Update of: bioRxiv. 2023 Nov 08;:. (PMID: 37577461)
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معلومات مُعتمدة: R01 DK099134 United States DK NIDDK NIH HHS; AR077533 United States AR NIAMS NIH HHS; DK099134 United States DK NIDDK NIH HHS; R01 AR077533 United States AR NIAMS NIH HHS; DK084171 United States DK NIDDK NIH HHS; R01 DK084171 United States DK NIDDK NIH HHS
فهرسة مساهمة: Keywords: GH insensitivity; IGF-1; JAK/STAT signaling; dwarfism; genetics; genomics; growth hormone; growth hormone receptor; medicine; mouse
المشرفين على المادة: 9002-72-6 (Growth Hormone)
67763-96-6 (Insulin-Like Growth Factor I)
0 (Receptors, Somatotropin)
0 (TMEM263 protein, human)
0 (Membrane Proteins)
تواريخ الأحداث: Date Created: 20240119 Date Completed: 20240208 Latest Revision: 20240325
رمز التحديث: 20240325
مُعرف محوري في PubMed: PMC10945605
DOI: 10.7554/eLife.90949
PMID: 38241182
قاعدة البيانات: MEDLINE
الوصف
تدمد:2050-084X
DOI:10.7554/eLife.90949