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Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.

Zhang J, Yang R, Liu Z, Hou C, Zong W, Zhang A, Sun X, Gao J - Hum. Mol. Genet. (2015)

Bottom Line: Failure of any one of these processes can result in embryonic malformation.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.The Loxl3 gene may be a candidate disease gene resulting in cleft palate and spinal deformity.

View Article: PubMed Central - PubMed

Affiliation: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.

No MeSH data available.


Related in: MedlinePlus

Morphological analysis of the heart, lung and aorta in LOXL3-deficient mice at E18.5. (A and B) There were no evident defects in the structure of heart in LOXL3-deficient mice. Bar: 200 μm. (C and D) The alveoli (green arrows) of LOXL3-deficient lungs were smaller than those of wild-type mice. Bar: 100 μm. The aortas (E and F) and tracheae (G and H) were normal in LOXL3-deficient mice. Bar: 50 μm. (I and J) Ventral view of thorax in mice. LOXL3-deficient mice had intact diaphragms (blue arrows).
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DDV333F6: Morphological analysis of the heart, lung and aorta in LOXL3-deficient mice at E18.5. (A and B) There were no evident defects in the structure of heart in LOXL3-deficient mice. Bar: 200 μm. (C and D) The alveoli (green arrows) of LOXL3-deficient lungs were smaller than those of wild-type mice. Bar: 100 μm. The aortas (E and F) and tracheae (G and H) were normal in LOXL3-deficient mice. Bar: 50 μm. (I and J) Ventral view of thorax in mice. LOXL3-deficient mice had intact diaphragms (blue arrows).

Mentions: Patients with Stickler syndrome caused by human LOXL3 mutation present with symptoms of high non-progressive myopia (14). Based on this phenotype in humans we examined the morphology of the eyes in mutant mice at E18.5. The structure of eyes in LOXL3 knockout mice was normal (Fig. 5A and B). Sirius red staining showed that collagen was mainly deposited on the cornea and sclera of eyes (Fig. 5C and D). The distribution of collagen fibres in cornea and sclera displayed no apparent difference between LOXL3 knockout and wild-type mice (Fig. 5E). We also examined the axial length of eyes in mice and there was no significant difference between the two groups (Fig. 5F). Hearts, aortas and tracheae of LOXL3 knockout mice exhibited no obvious abnormalities (Fig. 6A, B, E, F, G and H). Blood vessels and bronchi in lung of LOXL3-deficient mice were normal, while the alveoli of LOXL3-deficient lungs was smaller than those of the wild-type mice (Fig. 6C and D). Although thorax deformity as a result of abnormal curvature of the spine was observed, LOXL3-deficient mice still possessed intact diaphragms (Fig. 6I and J).Figure 5.


Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.

Zhang J, Yang R, Liu Z, Hou C, Zong W, Zhang A, Sun X, Gao J - Hum. Mol. Genet. (2015)

Morphological analysis of the heart, lung and aorta in LOXL3-deficient mice at E18.5. (A and B) There were no evident defects in the structure of heart in LOXL3-deficient mice. Bar: 200 μm. (C and D) The alveoli (green arrows) of LOXL3-deficient lungs were smaller than those of wild-type mice. Bar: 100 μm. The aortas (E and F) and tracheae (G and H) were normal in LOXL3-deficient mice. Bar: 50 μm. (I and J) Ventral view of thorax in mice. LOXL3-deficient mice had intact diaphragms (blue arrows).
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Related In: Results  -  Collection

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DDV333F6: Morphological analysis of the heart, lung and aorta in LOXL3-deficient mice at E18.5. (A and B) There were no evident defects in the structure of heart in LOXL3-deficient mice. Bar: 200 μm. (C and D) The alveoli (green arrows) of LOXL3-deficient lungs were smaller than those of wild-type mice. Bar: 100 μm. The aortas (E and F) and tracheae (G and H) were normal in LOXL3-deficient mice. Bar: 50 μm. (I and J) Ventral view of thorax in mice. LOXL3-deficient mice had intact diaphragms (blue arrows).
Mentions: Patients with Stickler syndrome caused by human LOXL3 mutation present with symptoms of high non-progressive myopia (14). Based on this phenotype in humans we examined the morphology of the eyes in mutant mice at E18.5. The structure of eyes in LOXL3 knockout mice was normal (Fig. 5A and B). Sirius red staining showed that collagen was mainly deposited on the cornea and sclera of eyes (Fig. 5C and D). The distribution of collagen fibres in cornea and sclera displayed no apparent difference between LOXL3 knockout and wild-type mice (Fig. 5E). We also examined the axial length of eyes in mice and there was no significant difference between the two groups (Fig. 5F). Hearts, aortas and tracheae of LOXL3 knockout mice exhibited no obvious abnormalities (Fig. 6A, B, E, F, G and H). Blood vessels and bronchi in lung of LOXL3-deficient mice were normal, while the alveoli of LOXL3-deficient lungs was smaller than those of the wild-type mice (Fig. 6C and D). Although thorax deformity as a result of abnormal curvature of the spine was observed, LOXL3-deficient mice still possessed intact diaphragms (Fig. 6I and J).Figure 5.

Bottom Line: Failure of any one of these processes can result in embryonic malformation.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.The Loxl3 gene may be a candidate disease gene resulting in cleft palate and spinal deformity.

View Article: PubMed Central - PubMed

Affiliation: Institute of Developmental Biology, School of Life Science, Shandong University, 27 Shanda Nanlu, Jinan 250100, China.

No MeSH data available.


Related in: MedlinePlus