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16p12.1 deletion orthologs are expressed in motile neural crest cells and are important for regulating craniofacial development in Xenopus laevis

Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O’Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
doi: https://doi.org/10.1101/2020.12.11.421347
Micaela Lasser
1Department of Biology, Boston College, Chestnut Hill, MA, USA
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Jessica Bolduc
1Department of Biology, Boston College, Chestnut Hill, MA, USA
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Luke Murphy
1Department of Biology, Boston College, Chestnut Hill, MA, USA
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Caroline O’Brien
1Department of Biology, Boston College, Chestnut Hill, MA, USA
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Sangmook Lee
1Department of Biology, Boston College, Chestnut Hill, MA, USA
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Santhosh Girirajan
2Department of Biochemistry and Molecular Biology, Pennsylvania State University, State College, PA, USA
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Laura Anne Lowery
3Department of Medicine, Boston University Medical Center, Boston, MA, USA
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  • For correspondence: lalowery@bu.edu
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Abstract

Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) that results in a hemizygous deletion of multiple genes at chromosome 16p12.1. In addition to ID, individuals with this deletion display a variety of symptoms including microcephaly, seizures, cardiac defects, and growth retardation. Moreover, patients also manifest severe craniofacial abnormalities, such as micrognathia, cartilage malformation of the ears and nose, and facial asymmetries; however, the function of the genes within the 16p12.1 region have not been studied in the context of vertebrate craniofacial development. The craniofacial tissues affected in patients with this deletion all derive from the same embryonic precursor, the cranial neural crest, leading to the hypothesis that one or more of the 16p12.1 genes may be involved in regulating neural crest cell (NCC)-related processes. To examine this, we characterized the developmental role of the 16p12.1-affected gene orthologs, polr3e, mosmo, uqcrc2, and cdr2, during craniofacial morphogenesis in the vertebrate model system, Xenopus laevis. While the currently-known cellular functions of these genes are diverse, we find that they share similar expression patterns along the neural tube, pharyngeal arches, and later craniofacial structures. As these genes show co-expression in the pharyngeal arches where NCCs reside, we sought to elucidate the effect of individual gene depletion on craniofacial development and NCC migration. We find that reduction of several 16p12.1 genes significantly disrupts craniofacial and cartilage formation, pharyngeal arch migration, as well as NCC specification and motility. Thus, we have determined that some of these genes play an essential role during vertebrate craniofacial patterning by regulating specific processes during NCC development, which may be an underlying mechanism contributing to the craniofacial defects associated with the 16p12.1 deletion.

Competing Interest Statement

The authors have declared no competing interest.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted December 11, 2020.
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16p12.1 deletion orthologs are expressed in motile neural crest cells and are important for regulating craniofacial development in Xenopus laevis
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O’Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
bioRxiv 2020.12.11.421347; doi: https://doi.org/10.1101/2020.12.11.421347
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16p12.1 deletion orthologs are expressed in motile neural crest cells and are important for regulating craniofacial development in Xenopus laevis
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O’Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
bioRxiv 2020.12.11.421347; doi: https://doi.org/10.1101/2020.12.11.421347

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