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Familial Thrombocyotpenia due to a WAC-ANKRD26 Gene Fusion

ABSTRACT: Human peripheral blood mononuclear cells from patients carrying a WAC-ANKRD26 gene fusion caused by a duplication-inversion-duplication and healthy controls

ORGANISM(S): Homo sapiens

PROVIDER: GSE166409 | GEO | 2021/04/05

REPOSITORIES: GEO

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Familial Thrombocyotpenia due to a WAC-ANKRD26 Gene Fusion

Project description:Familial Thrombocyotpenia due to a WAC-ANKRD26 Gene Fusion

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Project description:Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard molecular analyses. We describe a family presenting with a phenotype resembling inherited thrombocytopenia 2 (THC2). THC2 is generally caused by single nucleotide variants that prevent silencing of ANKRD26 expression during hematopoietic differentiation. Short-read whole-exome and genome sequencing approaches were unable to identify a causal variant in this family. Using long-read whole-genome sequencing, a large complex structural variant involving a paired-duplication inversion was identified. Through functional studies, we show that this structural variant results in a pathogenic gain-of-function WAC-ANKRD26 fusion transcript. Our findings illustrate how complex structural variants that may be missed by conventional genome sequencing approaches can cause human disease.

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Regulation of gene expression by WAC/RNF20/RNF40 in HEK293A cells

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Regulation of gene expression by WAC/RNF20/RNF40 in HEK293A cells

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Project description:To investigate the function of Wac in the regulation of B cell activation and plasmablasts differentiation, we used Cre-Loxp system to generate Wac conditional knockout mice (Wacf/f Cd19cre/+). We then performed gene expression profiling analysis using data obtained from RNA-seq of in vitro LPS activated wild-type and Wac knockout B cells.

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Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

Project description:Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments, neurobehavioral phenotypes including autism and attention deficit hyperactivity disorder (ADHD), and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms. One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused primarily by pathogenic variants in the WAC gene. Individuals with DESSH syndrome exhibit a recognizable craniofacial gestalt, developmental delay/intellectual disability, neurobehavioral symptoms that include autism, ADHD, behavioral difficulties and seizures. However, no thorough studies from a mammalian model exist to understand how these changes occur. To overcome this, we developed both murine and zebrafish Wac deletion mutants and studied whether their phenotypes recapitulate those described in individuals with DESSH syndrome. We show that the two Wac models exhibit craniofacial and behavioral changes, reminiscent of abnormalities found in DESSH syndrome. In addition, each model revealed impacts to GABAergic neurons and further studies showed that the mouse mutants are susceptible to seizures. These studies begin to uncover some biological underpinnings of DESSH syndrome and elucidate the biology of Wac, with advantages in each model.

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Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

Project description:Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

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The HDAC inhibitor Panobinostat (LBH589) exerts in vivo anti-leukaemic activity against in MLL-rearranged Acute Lymphoblastic Leukaemia and involves the RNF20/RNF40/WAC – H2B ubiquitination axis

Project description:We demonstrate the in vivo efficacy of the histone deacetylase inhibitor Panobinostat (LHB589) against MLL-rearranged ALL using xenograft mouse models of MLL-rearranged ALL cell lines and primary patient cells. Panobinostat monotherapy showed strong anti-leukaemic effects, extending survival and reducing overall disease burden. Comprehensive molecular analyses in vitro showed the anti-leukaemic activity in MLL-rearranged ALL to involve depletion of H2B ubiquitination via suppression of the RNF20/RNF40/WAC E3 ligase complex.

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