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Establishment and characterization of R oberts syndrome and SC phocomelia model medaka ( O ryzias latipes )
Author(s) -
Morita Akihiro,
Nakahira Kumiko,
Hasegawa Taeko,
Uchida Kaoru,
Taniguchi Yoshihito,
Takeda Shunichi,
Toyoda Atsushi,
Sakaki Yoshiyuki,
Shimada Atsuko,
Takeda Hiroyuki,
Yanagihara Itaru
Publication year - 2012
Publication title -
development, growth and differentiation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.864
H-Index - 66
eISSN - 1440-169X
pISSN - 0012-1592
DOI - 10.1111/j.1440-169x.2012.01362.x
Subject(s) - mutant , biology , downregulation and upregulation , genetics , gene , phenotype , microbiology and biotechnology , reverse genetics , mutation , oryzias
Roberts syndrome and SC phocomelia ( RBS / SC ) are genetic autosomal recessive syndromes caused by establishment of cohesion 1 homolog 2 ( ESCO 2 ) mutation. RBS / SC appear to have a variety of clinical features, even with the same mutation of the ESCO 2 gene. Here, we established and genetically characterized a medaka model of RBS / SC by reverse genetics. The RBS / SC model was screened from a mutant medaka library produced by the T argeting Induced L ocal L esions in G enomes method. The medaka mutant carrying the homozygous mutation at R 80 S in the conserved region of ESCO 2 exhibited clinical variety (i.e. developmental arrest with craniofacial and chromosomal abnormalities and embryonic lethality) as characterized in RBS / SC . Moreover, widespread apoptosis and downregulation of some gene expression, including notch1a , were detected in the R 80 S mutant. The R80S mutant is the animal model for RBS / SC and a valuable resource that provides the opportunity to extend knowledge of ESCO 2. Downregulation of some gene expression in the R 80 S mutant is an important clue explaining non‐correlation between genotype and phenotype in RBS / SC .