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Cited by 72Cleft Lip and Palate ResearchDevelopmental Biology and Gene RegulationCongenital limb and hand anomalies

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

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Zhang, Jian, Yang, Rui, Liu, Ziyi, Hou, Congzhe, Zong, Wen, Zhang, Aizhen, Sun, Xiaoyang, Gao, Jiangang·2015·Human Molecular Genetics
DOI 10.1093/hmg/ddv333PMC PMC4599675
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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.

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  • The miR-140-5p-G targets include many genes important for skeletal development and homeostasis, including Loxl3, Btg1, and Trps1, and genes associated with various metabolic pathways.

    “The miR-140-5p-G targets include many genes important for skeletal development and homeostasis, including Loxl3, Btg1, and Trps1, and genes associated with various metabolic pathways”

    From Gain-of-function mutation of microRNA-140 in human skeletal dysplasia (2019) · cites this paper as [22]

    The Results section and the supplied Abstract (page not provided) show that loss of Loxl3 disrupts palate and vertebral development in mice, supporting its relevance to skeletal development. The paper does not identify Loxl3, Btg1, or Trps1 as miR-140-5p-G targets, or address the claimed metabolic-pathway targets; searches for those terms found no supporting passage. (LLM, conf=0.86)

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Cited by

Sorted by citations

Authors
Zhang, J., Yang, R., Liu, Z., Hou, C., Zong, W., Zhang, A., Sun, X., & Gao, J.
Affiliations
Shandong University (CN)
Corresponding author
Gao, Jiangang
ORCID
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2015-08-24
Volume
24
Issue
21
Pages
6174-6185
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
DOI
10.1093/hmg/ddv333
PMC
PMC4599675
OpenAlex
W2288756028
Cited by
72
References
0
Citations by year
2026: 4 · 2025: 4 · 2024: 2 · 2023: 7 · 2022: 6 · 2021: 8 · 2020: 7 · 2019: 11 · 2018: 8 · 2017: 8 · 2016: 6
FWCI
5.04
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Human Molecular Genetics (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • National Natural Science Foundation of China (30871436, 30973297, 31171194)
  • National Basic Research Program (2010CB945002, 2014CB541703)
  • Shandong Provincial Science and Technology Key Program (2009GG10002039)
  • Shandong Provincial Natural Science Foundation of China (ZR2013CQ041)
  • Independent Innovation Foundation of Shandong University (2013GN011)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
Keywords
LOXL3, cleft palate, spinal deformity, palatogenesis, vertebral development, collagen cross-linking, embryonic development, perinatal lethality, knockout mice
MeSH terms
Amino Acid Oxidoreductases, Animals, Aorta, Cleft Palate, Collagen, Desmosine, Diaphragm, Eye, Hydroxyproline, Lung, Mice, Inbred C57BL, Myocardium, Palate, Spine, Thoracic Vertebrae, Trachea, Gene Targeting, Craniofacial Abnormalities, Embryonic Development, Mice

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