Identification of PlexinD1 and AHDC1 as a putative interactors for Tip-1 protein

Shalaby, Manal; Hampson, Lynne; Oliver, Anthony W.; Hampson, Ian N.

doi:10.1007/s13258-011-0033-1

Cited by 7 publications

(4 citation statements)

References 34 publications

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“…The AT-hook binding domain in MECP2, the gene mutated in Rett syndrome, plays an important role in chromatin organization ( Baker et al 2013 ; Xu and Pozzo-Miller 2013 ). The second conserved region near the carboxyl terminus contains a carboxy-terminal PDZ binding domain consensus sequence that interacts with PDZ domain proteins ( Shalaby et al 2011 ). PDZ domain proteins regulate multiple biological processes such as transport of electrolyte and fluid ( Seidler et al 2009 ), ion channel signaling, and signal transduction systems by recognizing short amino acid motifs at the carboxyl termini of target proteins ( Lee and Zheng 2010 ).…”

Section: Discussionmentioning

confidence: 99%

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Yang¹,

Douglas²,

Monaghan³

et al. 2015

Cold Spring Harb Mol Case Stud

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Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The AHDC1 gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in AHDC1 are associated with ID and are primarily associated with a neurodevelopmental phenotype.

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Section: Discussionmentioning

confidence: 99%

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Yang¹,

Douglas²,

Monaghan³

et al. 2015

Cold Spring Harb Mol Case Stud

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“…[4] To examine whether Plexin D1 might be clinically useful as a diagnostic and prognostic biomarker in solid tumors, we analyzed Plexin D1 expression in a wide range of human tumors of different origin-various premalignant and nontumor-related tissues by immunohistochemistry. According to previous studies, [14] Plexin D1 has been connected to Tip-1, which was established as an interactor of E6, which is the cervical cancer oncogene. [15] To further investigate the possible role of Plexin D1 in the cervical cancer progression, we decided to study the expression of this gene in various cervical cancer stages.…”

Section: Introductionmentioning

confidence: 99%

Plexin D1: New Potential Biomarker for Cervical Cancer

Shalaby

Hampson

Oliver

et al. 2012

Journal of Immunoassay and Immunochemistry

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To explore possible role of Plexin D1 in cancer angiogenesis with special focus on cervical cancer. Twelve various normal tissues, 12 various tumor samples, and 59 different stages of cervical cancer samples on tissue microarrays were examined for the expression of Plexin D1. The findings of our study clearly indicate that Plexin D1 is strongly associated with cellular differentiation in the tissues investigated, and that expression is strongly dependent on the tumor histotype. In some tumor subtypes, the protein was detected at several-fold higher levels than was found in the corresponding normal tissues, while in others, expression was similar to normal tissues. Most significantly, strong expression was detected in the endothelial cells of the cervical cancer samples, yet no expression was seen in endothelial cells of normal cervical tissues, which suggests a potential role of Plexin D1 in cervical cancer-associated angiogenesis.Regarding the implications of Plexin D1 and its associations with cancer angiogenesis, it might be a potential cervical cancer biomarker if further studies confirm the present preliminary findings.

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“…In vitro proteininteraction assays have shown that AHDC1 interacts with a number of other nuclear proteins. [16][17][18][19][20][21] Therefore, conserved regions 1 and 2 of AHDC1 might interact with the DNA elements or protein partners. Interestingly, all of the de novo mutations found in these four probands might truncate conserved region 2 but preserve region 1.…”

mentioning

confidence: 99%

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Xia

Bainbridge

Tan

et al. 2014

The American Journal of Human Genetics

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Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 "known" disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome.

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Identification of PlexinD1 and AHDC1 as a putative interactors for Tip-1 protein

Cited by 7 publications

References 34 publications

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Plexin D1: New Potential Biomarker for Cervical Cancer

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

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