Ankrd17, an ubiquitously expressed ankyrin factor, is essential for the vascular integrity during embryogenesis

Hou, Shu-Jin; Chan, Li Wei; Chou, Yi-Chun; Su, Ching Yuan; Chen, Xin; Shih, Yen Ling; Tsai, Pei Chun; Shen, Chieh-Yu; Yan, Yu

doi:10.1016/j.febslet.2009.07.025

Cited by 26 publications

(28 citation statements)

References 32 publications

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“…MASK1 is overexpressed in acute leukemia patient cells and cell lines [11] and regulates cell cycle progression and proliferation in multiple myeloma [12]. MASK2 is essential for vascular integrity during embryogenesis [13]. …”

Section: Resultsmentioning

confidence: 99%

Mask Is Required for the Activity of the Hippo Pathway Effector Yki/YAP

et al. 2013

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Summary The Drosophila Yorkie (Yki) protein and its mammalian homolog Yes-associated protein (YAP) are potent growth promoters and YAP overexpression is associated with multiple types of cancer [1,2]. Yki and YAP are transcriptional co-activators and function as downstream effectors of the Hippo tumor suppressor pathway [1–4]. The regulation of Yki and YAP by the Hippo signaling pathway has been extensively investigated, however, how they regulate gene expression is poorly understood. To identify additional regulators of Yki activity we performed a genome-wide RNAi screen in Drosophila S2 cells. In this screen, we identified the conserved protein Mask (Multiple ankyrin repeats single KH domain) as a novel promoter of Yki activity in vitro and validated this function in vivo in Drosophila. We found that Mask is required downstream of the Hippo pathway for Yki to induce target gene expression and that Mask forms complexes with Yki. The human Mask homolog MASK1 complexes with YAP and it is required for full activity of YAP and elevated MASK1 expression is associated with worsened outcomes for breast cancer patients. We conclude that Mask is a novel cofactor for Yki/YAP required for optimal Yki/YAP activity during development and oncogenesis.

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Section: Resultsmentioning

confidence: 99%

Mask Is Required for the Activity of the Hippo Pathway Effector Yki/YAP

et al. 2013

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“…Functional studies in animal models [22] pointed at possible roles in cardiovascular- and/or growth-related phenotypes for Ankrd17 (locus 1) and Prkg2 (which resides ca 0.56 Mb downstream of locus 2). Specifically, Ankrd17 -deficiency led to serious hemorrhages and embryonic lethality in the mouse [25]. Secondary perturbations included arrest of the endocardium development, thinner myocardium and poor trabeculation in the cardiac ventricle.…”

Section: Resultsmentioning

confidence: 99%

Mapping Genetic Variants Associated with Beta-Adrenergic Responses in Inbred Mice

et al. 2012

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β-blockers and β-agonists are primarily used to treat cardiovascular diseases. Inter-individual variability in response to both drug classes is well recognized, yet the identity and relative contribution of the genetic players involved are poorly understood. This work is the first genome-wide association study (GWAS) addressing the values and susceptibility of cardiovascular-related traits to a selective β 1-blocker, Atenolol (ate), and a β-agonist, Isoproterenol (iso). The phenotypic dataset consisted of 27 highly heritable traits, each measured across 22 inbred mouse strains and four pharmacological conditions. The genotypic panel comprised 79922 informative SNPs of the mouse HapMap resource. Associations were mapped by Efficient Mixed Model Association (EMMA), a method that corrects for the population structure and genetic relatedness of the various strains. A total of 205 separate genome-wide scans were analyzed. The most significant hits include three candidate loci related to cardiac and body weight, three loci for electrocardiographic (ECG) values, two loci for the susceptibility of atrial weight index to iso, four loci for the susceptibility of systolic blood pressure (SBP) to perturbations of the β-adrenergic system, and one locus for the responsiveness of QTc (p<10−8). An additional 60 loci were suggestive for one or the other of the 27 traits, while 46 others were suggestive for one or the other drug effects (p<10−6). Most hits tagged unexpected regions, yet at least two loci for the susceptibility of SBP to β-adrenergic drugs pointed at members of the hypothalamic-pituitary-thyroid axis. Loci for cardiac-related traits were preferentially enriched in genes expressed in the heart, while 23% of the testable loci were replicated with datasets of the Mouse Phenome Database (MPD). Altogether these data and validation tests indicate that the mapped loci are relevant to the traits and responses studied.

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“…Several of these are within the confidence interval of a QTL for resistance to murine cytomegalovirus in a cross between C57L/J and MA/My (Stadnisky et al 2010). According to a previous study, disruptions in Ankrd17 are embryonic lethal (Hou et al 2009). Therefore, we were surprised to find a frame shift mutation and a premature stop codon in Ankrd17 , which one would predict to lead to a similar phenotype, yet C57L/J mice are viable.…”

Section: Discussionmentioning

confidence: 97%

Whole-Genome Sequence of the C57L/J Mouse Inbred Strain

Ananda

Takemon

Hinerfeld

et al. 2014

G3 Genes|Genomes|Genetics

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We sequenced the complete genome of the widely used C57L/J mouse inbred strain. With 40× average coverage, we compared the C57L/J sequence with that of the C57BL/6J and identified many known as well as novel private variants. This genome sequence adds another strain to the growing number of mouse inbred strains with complete genome sequences and is a valuable resource to the scientific community.

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Ankrd17, an ubiquitously expressed ankyrin factor, is essential for the vascular integrity during embryogenesis

Cited by 26 publications

References 32 publications

Mask Is Required for the Activity of the Hippo Pathway Effector Yki/YAP

Mask Is Required for the Activity of the Hippo Pathway Effector Yki/YAP

Mapping Genetic Variants Associated with Beta-Adrenergic Responses in Inbred Mice

Whole-Genome Sequence of the C57L/J Mouse Inbred Strain

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