Sperm MMP‐2 is indispensable for fast electrical block to polyspermy at fertilization in Xenopus tropicalis

2021 ◽  
Author(s):  
Mami Watabe ◽  
Azusa Hiraiwa ◽  
Mami Sakai ◽  
Tomoyo Ueno ◽  
Shuichi Ueno ◽  
...  
Keyword(s):  
Xenopus Tropicalis

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.

scholarly journals Identification of REST targets in the Xenopus tropicalis genome

BMC Genomics ◽  
2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Banu Saritas-Yildirim ◽  
Christopher P Childers ◽  
Christine G Elsik ◽  
Elena M Silva
Keyword(s):  
Xenopus Tropicalis ◽  
Tropicalis Genome

Sex reversal of the amphibian, Xenopus tropicalis, following larval exposure to an aromatase inhibitor

2009 ◽  
Vol 91 (2) ◽  
pp. 143-150 ◽  
Author(s):  
Allen W. Olmstead ◽  
Patricia A. Kosian ◽  
Joseph J. Korte ◽  
Gary W. Holcombe ◽  
Kacie K. Woodis ◽  
...  
Keyword(s):  
Aromatase Inhibitor ◽  
Sex Reversal ◽  
Xenopus Tropicalis
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