Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

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-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells.     

非均匀光照下人脸眼睛的定位方法

考虑非均匀光照下人脸眼睛的检测问题，提出了一种利用高频信息模板匹配方法从复杂图像中定位人脸眼睛的方法。选取80幅光线较好的人脸图像，对它们做光线规范化，提取Gabor高频特征，构造模板。利用统计模式识别的原理，在眼睛的大致区域进行模板匹配，突出眉毛与眼睛这一整体的大致位置，然后进行二值投影，最终确定人眼的准确位置。大量实验表明，该算法具有很高的精度和很强的鲁棒性。