Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1

Bosman, Erika A.; Estabel, Jeanne; Ismail, Ozama; Podrini, Christine; White, Jacqueline K.; Steel, Karen P.

doi:10.1007/s00335-012-9438-7

Cited by 3 publications

(3 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…BAC sequencing and transcription sequence analysis defined a single gene, called Ostm1 , which encodes a unique 3kb transcript highly expressed in osteoclasts and undetectable in homozygous gl / gl animals [ 49 ]. Of note, an additional allele of Ostm1 ( Ostm1 om ) was detected in an N -ethyl- N -nitrosourea (ENU) screen and results in a mild osteopetrotic phenotype but the mutation still needs to be defined [ 50 ].…”

Section: Mapping the Gl Locus And Characterizatmentioning

confidence: 99%

Ostm1 from Mouse to Human: Insights into Osteoclast Maturation

Vacher

Bruccoleri

Pata

2020

IJMS

View full text Add to dashboard Cite

The maintenance of bone mass is a dynamic process that requires a strict balance between bone formation and resorption. Bone formation is controlled by osteoblasts, while osteoclasts are responsible for resorption of the bone matrix. The opposite functions of these cell types have to be tightly regulated not only during normal bone development, but also during adult life, to maintain serum calcium homeostasis and sustain bone integrity to prevent bone fractures. Disruption of the control of bone synthesis or resorption can lead to an over accumulation of bone tissue in osteopetrosis or conversely to a net depletion of the bone mass in osteoporosis. Moreover, high levels of bone resorption with focal bone formation can cause Paget’s disease. Here, we summarize the steps toward isolation and characterization of the osteopetrosis associated trans-membrane protein 1 (Ostm1) gene and protein, essential for proper osteoclast maturation, and responsible when mutated for the most severe form of osteopetrosis in mice and humans.

show abstract

Section: Mapping the Gl Locus And Characterizatmentioning

confidence: 99%

Ostm1 from Mouse to Human: Insights into Osteoclast Maturation

Vacher

Bruccoleri

Pata

2020

IJMS

View full text Add to dashboard Cite

show abstract

“…An Ostm1 -deficient mouse exhibits high bone density, abnormal bone morphology, dental abnormalities, etc. The most common brain lesions in OPTB5 are also present in the mouse model, and abnormalities in the cerebellum may be caused by skull damage [ 50 , 51 , 52 ].…”

Section: Genotype and Clinical Phenotype Of Osteopetrosismentioning

confidence: 99%

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

Duan

2023

IJMS

View full text Add to dashboard Cite

Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems. However, few previous reports have focused on the features of craniofacial and dental problems in osteopetrosis. In this review, we go through the clinical features, types, and related pathogenic genes of osteopetrosis. Then we summarize and describe the characteristics of craniofacial and dental abnormalities in osteopetrosis that have been published in PubMed from 1965 to the present. We found that all 13 types of osteopetrosis have craniomaxillofacial and dental phenotypes. The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed. We conclude that the telltale craniofacial and dental abnormalities are important for dentists and other clinicians in the diagnosis of osteopetrosis and other genetic bone diseases.

show abstract

“…The protein displays 10 N ‐glycosylation consensus sites resulting in an apparent mass of ~60 kDa (Pandruvada et al, 2016). Several Ostm1 antibodies were raised, most of them commercially available, but they detect protein of variable mass (Bosman et al, 2012; Lange, Wartosch, Jentsch, & Fuhrmann, 2006; Majumdar, Capetillo‐Zarate, Cruz, Gouras, & Maxfield, 2011). The high level of glycosylation and association with intracellular membrane compartment may explain this inconstancy but importantly this also represents a major setback for protein expression studies.…”

Section: Introductionmentioning

confidence: 99%

Expression pattern of the V5‐Ostm1 protein in bacterial artificial chromosome transgenic mice

Pata

Behzadi

Vacher

2021

Genesis

View full text Add to dashboard Cite

Mutations in the osteopetrotic transmembrane protein 1 (Ostm1) gene are responsible for the most severe form of autosomal recessive osteopetrosis both in humans and in the gray lethal (gl/gl) mouse. This defect leads to increased bone mass with bone marrow occlusion and hematopoietic defects. To establish the expression profile of the mouse Ostm1 protein in vivo, homologous recombination in bacteria was designed to generate a V5-Ostm1 bacterial artificial chromosome (BAC) that was subsequently integrated in the mouse genome. Tissue expression of the transgene V5-Ostm1 RNA and protein in transgenic mice follow the endogenous expression profile. Immunohistochemistry analysis demonstrated expression in neuronal populations from central and peripheral nervous system and defined a unique cellular expression pattern. Importantly, together with appropriate protein post-translational modification, in vivo rescue of the osteopetrotic bone gl/gl phenotype in BAC V5-Ostm1 gl/gl mice is consistent with the expression of a fully functional and active protein. These mice represent a unique tool to unravel novel Ostm1 functions in individual tissue and neuronal cell populations and the V5-Ostm1 transgene represents an easy visual marker to monitor the expression of Ostm1 in vitro and in vivo.

show abstract

Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1

Cited by 3 publications

References 19 publications

Ostm1 from Mouse to Human: Insights into Osteoclast Maturation

Ostm1 from Mouse to Human: Insights into Osteoclast Maturation

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

Expression pattern of the V5‐Ostm1 protein in bacterial artificial chromosome transgenic mice

Contact Info

Product

Resources

About