<i>EYA4</i>, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with<i>SIX3</i>both physically and functionally

Abe, Yuichi; Oka, Akira; Mizuguchi, Masashi; Igarashi, Takashi; Ishikawa, Shumpei; Aburatani, Hiroyuki; Yokoyama, Shigetoshi; Asahara, Hiroshi; Nagao, Keiko; Yamada, Masakazu; Miyashita, Toshiyuki

doi:10.1002/humu.21094

Cited by 24 publications

(12 citation statements)

References 25 publications

(39 reference statements)

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“…The importance of maternal contribution of Importin α proteins is plausible, because it is known from Drosophila that the transition from maternal to zygotic control occurs only at cell cycle 13–14 [55,56]. Already before this transition the nuclear import machinery is essential to allow gene activity.…”

Section: Resultsmentioning

confidence: 99%

RNAi phenotypes are influenced by the genetic background of the injected strain

et al. 2013

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BackgroundRNA interference (RNAi) is a powerful tool to study gene function in organisms that are not amenable to classical forward genetics. Hence, together with the ease of comprehensively identifying genes by new generation sequencing, RNAi is expanding the scope of animal species and questions that can be addressed in terms of gene function. In the case of genetic mutants, the genetic background of the strains used is known to influence the phenotype while this has not been described for RNAi experiments.ResultsHere we show in the red flour beetle Tribolium castaneum that RNAi against Tc-importin α1 leads to different phenotypes depending on the injected strain. We rule out off target effects and show that sequence divergence does not account for this difference. By quantitatively comparing phenotypes elicited by RNAi knockdown of four different genes we show that there is no general difference in RNAi sensitivity between these strains. Finally, we show that in case of Tc-importin α1 the difference depends on the maternal genotype.ConclusionsThese results show that in RNAi experiments strain specific differences have to be considered and that a proper documentation of the injected strain is required. This is especially important for the increasing number of emerging model organisms that are being functionally investigated using RNAi. In addition, our work shows that RNAi is suitable to systematically identify the differences in the gene regulatory networks present in populations of the same species, which will allow novel insights into the evolution of animal diversity.

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Section: Resultsmentioning

confidence: 99%

RNAi phenotypes are influenced by the genetic background of the injected strain

et al. 2013

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“…However, the roles for mammalian Eya2 and Eya3 in craniofacial development have not yet been established, although they are required in other tissues (Grifone et al, 2007; Soker et al, 2008); there also are no reported human defects involving Eya2 or Eya3 to date. Nonetheless, the expression of Eya2 and Eya3 in the Xenopus and chick PPE and placodes, and the demonstrated ability of each of the four vertebrate Eya proteins to interact with Six1, Six2 and/or Six4 (Heanue et al, 1999; Ohto et al, 1999; Ikeda et al, 2002; Li et al, 2003; Schonberger et al, 2005; Abe et al, 2009) predict that all four Eya genes are likely to act as Six gene co-factors, perhaps with redundant roles, during craniofacial development.…”

Section: Resultsmentioning

confidence: 99%

Developmental expression patterns of candidate cofactors for vertebrate six family transcription factors

Neilson

Pignoni

Yan

et al. 2010

Developmental Dynamics

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Six family transcription factors play important roles in craniofacial development. Their transcriptional activity can be modified by cofactor proteins. Two Six genes and one cofactor gene (Eya1) are involved in the human Branchio-otic (BO) and Branchio-otic-renal (BOR) syndromes. However, mutations in Six and Eya genes only account for approximately half of these patients. To discover potential new causative genes, we searched the Xenopus genome for orthologues of Drosophila cofactor proteins that interact with the fly Six-related factor, SO. We identified 33 Xenopus genes with high sequence identity to 20 of the 25 fly SO-interacting proteins. We provide the developmental expression patterns of the Xenopus orthologues for 11 of the fly genes, and demonstrate that all are expressed in developing craniofacial tissues with at least partial overlap with Six1/Six2. We speculate that these genes may function as Six-interacting partners with important roles in vertebrate craniofacial development and perhaps congenital syndromes. Developmental Dynamics 239:3446-3466,

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“…This suggests that Eya4 plays an important role in inner-ear function. A recent study has shown that EYA4 and SIX3 interact both physically and functionally, and both genes have been reported to be mutated in some cases of holoprosencephaly [83–85]. …”

Section: Eya and So/six Genes In Vertebrate Development And Diseasementioning

confidence: 99%

The EYA-SO/SIX complex in development and disease

2012

Pediatr Nephrol

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Eyes absent (EYA) and Sine oculis (SO/SIX) proteins function as transcriptional activation complexes and play essential roles in organogenesis during embryonic development in regulating cell proliferation and survival and coordination of particular differentiation programs. Mutations of the Eya and So/Six genes cause profound developmental defects in organisms as diverse as flies, frogs, fish, mice, and humans. EYA proteins also possess an intrinsic phosphatase activity, which is essential for normal development. Here, we review crucial roles of EYA and SO/SIX in development and disease in mice and humans.

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EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts withSIX3both physically and functionally

Cited by 24 publications

References 25 publications

RNAi phenotypes are influenced by the genetic background of the injected strain

RNAi phenotypes are influenced by the genetic background of the injected strain

Developmental expression patterns of candidate cofactors for vertebrate six family transcription factors

The EYA-SO/SIX complex in development and disease

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