scholarly journals Generation of a new six1 ‐null line in Xenopus tropicalis for study of development and congenital disease

genesis ◽  
2021 ◽  
Author(s):  
Kelsey Coppenrath ◽  
Andre L. P. Tavares ◽  
Nikko‐Ideen Shaidani ◽  
Marcin Wlizla ◽  
Sally A. Moody ◽  
...  
Keyword(s):  
Xenopus Tropicalis ◽  
Null Line ◽  
Congenital Disease

scholarly journals Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease

2021 ◽  
Author(s):  
Kelsey Coppenrath ◽  
Andre Luiz Pasqua Tavares ◽  
Nikko-Ideen Shaidani ◽  
Marcin Wlizla ◽  
Sally A Moody ◽  
...  
Keyword(s):  
Target Genes ◽  
Branchial Arch ◽  
Xenopus Tropicalis ◽  
Mutant Line ◽  
Otic Vesicle ◽  
Null Line ◽  
Congenital Disease ◽  
Sine Oculis ◽  
Larval Stages ◽  
Cranial Ganglia

The vertebrate Six (Sine oculis homeobox) family of homeodomain transcription factors play critical roles in the development of several organs. Six1 plays a central role in cranial placode development, including the precursor tissues of the inner ear, as well as other cranial sensory organs and the kidney. In humans, mutations in SIX1 underlie some cases of branchio-oto-renal syndrome (BOR), which is characterized by moderate to severe hearing loss. We utilized CRISPR/Cas9 technology to establish a six1 mutant line in Xenopus tropicalis that is available to the research community. We demonstrate that at larval stages, the six1-null animals show severe disruptions in gene expression of putative Six1 target genes in the otic vesicle, cranial ganglia, branchial arch and neural tube. At tadpole stages, six1-null animals display dysmorphic Meckel's, ceratohyal and otic capsule cartilage morphology. This mutant line will be of value for the study of the development of several organs as well as congenital syndromes that involve these tissues.

Alpha-Fetoprotein and Screening Markers of Congenital Disease

1992 ◽  
Vol 12 (3) ◽  
pp. 481-492 ◽  
Author(s):  
Shan G. Sundaram ◽  
Phillip J. Goldstein ◽  
Saravanan Manimekalai ◽  
Robert E. Wenk
Keyword(s):  
Alpha Fetoprotein ◽  
Congenital Disease

Generation and Characterization of Developmental Mutations in Xenopus tropicalis

2003 ◽  
Vol 4 (8) ◽  
pp. 673-685 ◽  
Author(s):  
Takuya Nakayama ◽  
Robert Grainger
Keyword(s):  
Xenopus Tropicalis

scholarly journals Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
William L. Macken ◽  
Annie Godwin ◽  
Gabrielle Wheway ◽  
Karen Stals ◽  
Liliya Nazlamova ◽  
...  
Keyword(s):  
Genome Sequencing ◽  
Donor Site ◽  
Xenopus Tropicalis ◽  
Splice Donor Site ◽  
Homologous Region ◽  
Disease Genes ◽  
Coat Proteins ◽  
Splice Donor ◽  
Severe Intellectual Disability

Abstract Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human diseases known collectively as “coatopathies”. Methods Whole exome or genome sequencing of two families with a neuro-developmental syndrome, variable microcephaly and cataracts revealed biallelic variants in COPB1, which encodes the beta-subunit of COPI (β-COP). To investigate Family 1’s splice donor site variant, we undertook patient blood RNA studies and CRISPR/Cas9 modelling of this variant in a homologous region of the Xenopus tropicalis genome. To investigate Family 2’s missense variant, we studied cellular phenotypes of human retinal epithelium and embryonic kidney cell lines transfected with a COPB1 expression vector into which we had introduced Family 2’s mutation. Results We present a new recessive coatopathy typified by severe developmental delay and cataracts and variable microcephaly. A homozygous splice donor site variant in Family 1 results in two aberrant transcripts, one of which causes skipping of exon 8 in COPB1 pre-mRNA, and a 36 amino acid in-frame deletion, resulting in the loss of a motif at a small interaction interface between β-COP and β’-COP. Xenopus tropicalis animals with a homologous mutation, introduced by CRISPR/Cas9 genome editing, recapitulate features of the human syndrome including microcephaly and cataracts. In vitro modelling of the COPB1 c.1651T>G p.Phe551Val variant in Family 2 identifies defective Golgi to ER recycling of this mutant β-COP, with the mutant protein being retarded in the Golgi. Conclusions This adds to the growing body of evidence that COPI subunits are essential in brain development and human health and underlines the utility of exome and genome sequencing coupled with Xenopus tropicalis CRISPR/Cas modelling for the identification and characterisation of novel rare disease genes.

scholarly journals Correction to: Evolutionary divergence in tail regeneration between Xenopus laevis and Xenopus tropicalis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Shouhong Wang ◽  
Yun-Bo Shi
Keyword(s):  
Xenopus Laevis ◽  
Xenopus Tropicalis ◽  
Evolutionary Divergence ◽  
Tail Regeneration

An amendment to this paper has been published and can be accessed via the original article.

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