التفاصيل البيبلوغرافية
| العنوان: |
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. |
| المؤلفون: |
Hellemans, Jan, Preobrazhenska, Olena, Willaert, Andy, Debeer, Philippe, Verdonk, Peter C. M, Costa, Teresa, Janssens, Katrien, Menten, Bjorn, Roy, Nadine Van, Vermeulen, Stefan J. T., Savarirayan, Ravi, Hul, Wim Van, Vanhoenacker, Filip, Huylebroeck, Danny, Paepe, Anne De, Naeyaert, Jean-Marie, Vandesompele, Jo, Speleman, Frank, Verschueren, Kristin, Coucke, Paul J. |
| المصدر: |
Nature Genetics; Nov2004, Vol. 36 Issue 11, p1213-1218, 6p |
| مصطلحات موضوعية: |
BONE diseases, OSTEOGENESIS imperfecta, PHENOTYPES, MELORHEOSTOSIS, MEMBRANE proteins, XENOPUS laevis, GENETICS |
| مستخلص: |
Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFßreceptor-activated Smads and antagonized both signaling pathways in human cells. [ABSTRACT FROM AUTHOR] |
|
Copyright of Nature Genetics is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
