دورية أكاديمية
أعرض في EDS

Deletion of Mecom in mouse results in early-onset spinal deformity and osteopenia.

التفاصيل البيبلوغرافية
العنوان: Deletion of Mecom in mouse results in early-onset spinal deformity and osteopenia.
المؤلفون: Juneja SC; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA; Department of Orthopedics, University of Rochester Medical Center, USA; Department of Biomedical Engineering, University of Rochester Medical Center, USA. Electronic address: sjuneja.phd@gmail.com., Vonica A; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: alin_vonica@urmc.rochester.edu., Zeiss C; Case Western Reserve University, USA. Electronic address: caroline.zeiss@yale.edu., Lezon-Geyda K; Department of Pathology, Yale University, USA. Electronic address: kimberly.lezon-geyda@yale.edu., Yatsula B; Department of Pathology, Yale University, USA. Electronic address: bogdan.yatsula@yale.edu., Sell DR; Case Western Reserve University, USA. Electronic address: drs7@cwru.edu., Monnier VM; Case Western Reserve University, USA. Electronic address: vmm3@cwru.edu., Lin S; Department of Pathology, Yale University, USA. Electronic address: sharon.lin@yale.edu., Ardito T; Department of Pathology, Yale University, USA. Electronic address: thomas.ardito@yale.edu., Eyre D; University of Washington, Seattle, USA. Electronic address: deyre@u.washington.edu., Reynolds D; Department of Orthopedics, University of Rochester Medical Center, USA. Electronic address: david_reynolds@urmc.rochester.edu., Yao Z; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: zhenqiang_yao@urmc.rochester.edu., Awad HA; Department of Orthopedics, University of Rochester Medical Center, USA; Department of Biomedical Engineering, University of Rochester Medical Center, USA. Electronic address: hani_awad@urmc.rochester.edu., Yu H; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: yhb3508@163.com., Wilson M; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: michael_wilson@urmc.rochester.edu., Honnons S; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: sylvie.honnons@gmail.com., Boyce BF; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: brendan_boyce@urmc.rochester.edu., Xing L; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: lianping_xing@urmc.rochester.edu., Zhang Y; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: yi_zhang@urmc.rochester.edu., Perkins AS; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, USA. Electronic address: archibald_perkins@urmc.rochester.edu.
المصدر: Bone [Bone] 2014 Mar; Vol. 60, pp. 148-61. Date of Electronic Publication: 2013 Dec 04.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE
أسماء مطبوعة: Publication: New York : Elsevier Science
Original Publication: Elmsford, NY : Pergamon Press, c1985-
مواضيع طبية MeSH: Gene Deletion*, Bone Diseases, Metabolic/*complications , Bone Diseases, Metabolic/*pathology , DNA-Binding Proteins/*metabolism , Spine/*abnormalities , Transcription Factors/*metabolism, Animals ; Biomechanical Phenomena ; Bone Diseases, Metabolic/diagnostic imaging ; Bone Diseases, Metabolic/genetics ; Collagen/genetics ; Collagen/ultrastructure ; Female ; Gene Targeting ; Genetic Loci/genetics ; Hedgehog Proteins/genetics ; Humans ; Intervertebral Disc/diagnostic imaging ; Intervertebral Disc/pathology ; Kyphosis/congenital ; Kyphosis/diagnostic imaging ; Kyphosis/genetics ; Kyphosis/pathology ; Lordosis/congenital ; Lordosis/diagnostic imaging ; Lordosis/genetics ; Lordosis/pathology ; Lumbar Vertebrae/diagnostic imaging ; Lumbar Vertebrae/pathology ; MDS1 and EVI1 Complex Locus Protein ; Male ; Mice ; Mutation/genetics ; Osteogenesis ; Proto-Oncogenes ; Receptor, Parathyroid Hormone, Type 1/genetics ; Spine/diagnostic imaging ; Spine/pathology ; Tendons/diagnostic imaging ; Tendons/pathology ; Tendons/ultrastructure ; Thoracic Vertebrae/diagnostic imaging ; Thoracic Vertebrae/pathology ; X-Ray Microtomography
مستخلص: Recent studies have indicated a role for a MECOM allele in susceptibility to osteoporotic fractures in humans. We have generated a mutation in Mecom in mouse (termed ME(m1)) via lacZ knock-in into the upstream transcription start site for the gene, resulting in disruption of Mds1 and Mds1-Evi1 transcripts, but not of Evi1 transcripts. We demonstrate that ME(m1/m1) mice have severe kyphoscoliosis that is reminiscent of human congenital or primary kyphoscoliosis. ME(m1/m1) mice appear normal at birth, but by 2weeks, they exhibit a slight lumbar lordosis and narrowed intervertebral space. This progresses to severe lordosis with disc collapse and synostosis, together with kyphoscoliosis. Bone formation and strength testing show that ME(m1/m1) mice have normal bone formation and composition but are osteopenic. While endochondral bone development is normal, it is markedly dysplastic in its organization. Electron micrographs of the 1week postnatal intervertebral discs reveals marked disarray of collagen fibers, consistent with an inherent weakness in the non-osseous connective tissue associated with the spine. These findings indicate that lack of ME leads to a complex defect in both osseous and non-osseous musculoskeletal tissues, including a marked vertebral osteopenia, degeneration of the IVD, and disarray of connective tissues, which is likely due to an inherent inability to establish and/or maintain components of these tissues.
(Copyright © 2013 Elsevier Inc. All rights reserved.)
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معلومات مُعتمدة: R01 CA112188 United States CA NCI NIH HHS; AR46032 United States AR NIAMS NIH HHS; R01 AR048697 United States AR NIAMS NIH HHS; P30 AR046032 United States AR NIAMS NIH HHS; R01 AR056696 United States AR NIAMS NIH HHS; P30 AR061307 United States AR NIAMS NIH HHS; P30AR061307 United States AR NIAMS NIH HHS; R01 AR043510 United States AR NIAMS NIH HHS
فهرسة مساهمة: Keywords: Congenital kyphoscoliosis; MDS1-EVI1; Osteoporosis
المشرفين على المادة: 0 (DNA-Binding Proteins)
0 (Hedgehog Proteins)
0 (MDS1 and EVI1 Complex Locus Protein)
0 (Mecom protein, mouse)
0 (Receptor, Parathyroid Hormone, Type 1)
0 (Transcription Factors)
0 (ihh protein, mouse)
9007-34-5 (Collagen)
تواريخ الأحداث: Date Created: 20131210 Date Completed: 20141021 Latest Revision: 20240610
رمز التحديث: 20240610
مُعرف محوري في PubMed: PMC4440591
DOI: 10.1016/j.bone.2013.11.020
PMID: 24316420
قاعدة البيانات: MEDLINE
الوصف
تدمد:1873-2763
DOI:10.1016/j.bone.2013.11.020