@entity72980 XXXX and bone abnormalities.

@entity1 @entity32251 @entity72980 @entity19 @entity2450 @entity600 @entity64937 @entity4334
Height is the result of many growth and development processes. Most of the genes associated with height are known to play a role in skeletal development. Single- @entity4334 polymorphisms in the @entity64937 gene have been associated with @entity1 height. However, it is not clear how this gene influences linear growth. Here we show that a targeted mutation in @entity72980 leads to @entity600 . Hind limb length in mutants was significantly shorter than in wild-type @entity19 . Studies revealed differences in maturation of femur and tibia suggesting alterations in limb patterning. Morphometric studies showed increased bone formation evidenced by increased trabecular bone area and the ratio of bone area to total area, leading to reductions in the ratio of marrow area/total area in the femur. Micro-CTs and von Kossa staining demonstrated increased mineral in the femur. Moreover, @entity2450 and @entity32251 were more highly expressed in mutant @entity19 than in wild-type @entity19 femurs. These data suggest that femur bone shortening may be due to premature ossification. On the other hand, tibias appear to be shorter due to a delay in cartilage and bone development. Morphometric studies showed reduction in growth plate and bone formation. These defects did not affect bone mineralization, although the volume of primary bone and levels of @entity2450 and @entity32251 were higher. @entity600 were observed including fused sternebrae, reduced mineralization in the skull, medial and metacarpal phalanges. Primary cilia from chondrocytes, osteoblasts, and embryonic fibroblasts (MEFs) isolated from knockout @entity19 were shorter and fewer cells had primary cilia in comparison to cells from wild-type @entity19 . In addition, @entity72980 knockdown in wild-type MEFs by @entity72980 siRNA duplex reproduced the shorter primary cilia phenotype. Our findings disclosed unexpected functions for @entity72980 in the regulation of skeletal growth and mineralization, perhaps because of its role in primary cilia of chondrocytes and osteoblasts.
