desmosine and Cleft-Palate

In mammals, embryonic development are highly regulated morphogenetic processes that are tightly controlled by genetic elements. Failure of any one of these processes can result in embryonic malformation. The lysyl oxidase (LOX) family genes are closely related to human diseases. In this study, we investigated the essential role of lysyl oxidase-like 3 (LOXL3), a member of the LOX family, in embryonic development. Mice lacking LOXL3 exhibited perinatal lethality, and the deletion of the Loxl3 gene led to impaired development of the palate shelves, abnormalities in the cartilage primordia of the thoracic vertebrae and mild alveolar shrinkage. We found that the obvious decrease of collagen cross-links in palate and spine that was induced by the lack of LOXL3 resulted in cleft palate and spinal deformity. Thus, we provide critical in vivo evidence that LOXL3 is indispensable for mouse palatogenesis and vertebral column development. The Loxl3 gene may be a candidate disease gene resulting in cleft palate and spinal deformity.

Topics: Amino Acid Oxidoreductases; Animals; Aorta; Cleft Palate; Collagen; Craniofacial Abnormalities; Desmosine; Diaphragm; Embryonic Development; Eye; Gene Targeting; Hydroxyproline; Lung; Mice; Mice, Inbred C57BL; Myocardium; Palate; Spine; Thoracic Vertebrae; Trachea