title: Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.
abstract: 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.
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.
authors: Jian
authors: J
authors: Zhang
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.
authors: Rui
authors: R
authors: Yang
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.
authors: Ziyi
authors: Z
authors: Liu
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.
authors: Congzhe
authors: C
authors: Hou
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.
authors: Wen
authors: W
authors: Zong
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.
authors: Aizhen
authors: A
authors: Zhang
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.
authors: Xiaoyang
authors: X
authors: Sun
authors: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China jggao@sdu.edu.cn.
authors: Jiangang
authors: J
authors: Gao
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000096:biosynthesis / Q000235:genetics / Q000502:physiology*; D000818:Animals; D001011:Aorta / Q000473:pathology; D002972:Cleft Palate / Q000196:embryology*; D003094:Collagen / Q000378:metabolism; D019465:Craniofacial Abnormalities / Q000235:genetics; D003895:Desmosine / Q000378:metabolism; D003964:Diaphragm / Q000473:pathology; D047108:Embryonic Development / Q000502:physiology*; D005123:Eye / Q000378:metabolism / Q000473:pathology; D018390:Gene Targeting; D006909:Hydroxyproline / Q000378:metabolism; D008168:Lung / Q000473:pathology; D051379:Mice; D008810:Mice, Inbred C57BL; D009206:Myocardium / Q000473:pathology; D010159:Palate / Q000378:metabolism; D013131:Spine / Q000002:abnormalities*; D013904:Thoracic Vertebrae / Q000196:embryology; D014132:Trachea / Q000473:pathology
chemical_list: D003895:Desmosine; D003094:Collagen; D000594:Amino Acid Oxidoreductases; C511777:LOXL3 protein, mouse; D006909:Hydroxyproline