AIP and its interacting partners

Trivellin, Giampaolo; Korbonits, Márta

doi:10.1530/joe-11-0054

Cited by 127 publications

(143 citation statements)

References 151 publications

(239 reference statements)

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“…The variant p.Leu294Pro is localized on exon 6, in the third tetratricopeptide repeat (TPR) domain, known as a key domain for protein-protein interactions and scored as being likely to affect AIP protein on in silico analyses. The deletion of three bases (c. 735_737 del) in exon 5 induces the loss of glutamine 246 in the second TPR domain (18), therefore supporting a strong pathological role of this mutant.…”

Section: Resultsmentioning

confidence: 89%

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

Cuny

Pertuit

Sahnoun-Fathallah

et al. 2013

European Journal of Endocrinology

144

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Context: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age %30 years old) with sporadic pituitary macroadenomas. Otherwise, there are few data concerning the prevalence of multiple endocrine neoplasia type 1 (MEN1) mutations in such a population. Objective: We assessed the prevalence of both AIP and MEN1 genetic abnormalities (mutations and large gene deletions) in young patients (age %30 years old) diagnosed with sporadic and isolated macroadenoma, without hypercalcemia and/or MEN1-associated lesions. Design: The entire coding sequences of AIP and MEN1 were screened for mutations. In cases of negative sequencing screening, multiplex ligation-dependent probe amplification was performed for the detection of large genetic deletions. Patients and settings: One hundred and seventy-four patients from endocrinology departments of 15 French University Hospital Centers were eligible for this study. Results: Twenty-one out of 174 (12%) patients had AIP (nZ15, 8.6%) or MEN1 (nZ6, 3.4%) mutations. In pediatric patients (age %18 years old), AIP/MEN1 mutation frequency reached nearly 22% (nZ10/46). AIPmut and MEN1mut were identified in 8/79 (10.1%) and 1/79 (1.2%) somatotropinoma patients respectively; they each accounted for 4/74 (5.4%) prolactinoma (PRL) patients with mutations. Half of those patients (nZ3/6) with gigantism displayed mutations in AIP. Interestingly, 4/12 (33%) patients with non-secreting adenomas bore either AIP or MEN1 mutations, whereas none of the eight corticotroph adenomas or the single thyrotropinoma case had mutations. No large gene deletions were observed in sequencing-negative patients. Conclusion: Mutations in MEN1 can be of significance in young patients with sporadic isolated pituitary macroadenomas, particularly PRL, and together with AIP, we suggest genetic analysis of MEN1 in such a population.

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Section: Resultsmentioning

confidence: 89%

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

Cuny

Pertuit

Sahnoun-Fathallah

et al. 2013

European Journal of Endocrinology

144

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“…These mutations include missense, nonsense, and deletion mutations (8 -10). AIP is a co-chaperone with Hsp90 in the maturation of the aryl hydrocarbon receptor (11), similar to the co-chaperone function of the FKBP and TPR domain-containing immunophilins FKBP51/52 that act on steroid hormone receptors (12). Furthermore, AIPL1 itself was found to interact with Hsp90 and Hsp70 (13).…”

mentioning

confidence: 78%

Interaction of Aryl Hydrocarbon Receptor-interacting Protein-like 1 with the Farnesyl Moiety

Majumder

Gopalakrishna

Cheguru

et al. 2013

Journal of Biological Chemistry

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Background: Mutations in AIPL1, a chaperone of the lipidated visual effector phosphodiesterase-6, cause severe childhood blindness. Results: AIPL1 binds the farnesyl lipid moiety. The unique insert region of AIPL1 is critical for this interaction. Conclusion: The AIPL1-farnesyl interaction suggests its role in the interaction with phosphodiesterase-6 and normal function of AIPL1. Significance: This study describes a novel mechanism of AIPL1 in retina disease.

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“…Variants near other AHR pathway genes also appeared correlated with the tolerance phenotype. For example, the most significant QTL identified, explaining up to 46% of the phenotypic variance within families analyzed (Nacci, Proestou, et al., 2016), was nearby to the gene encoding aryl hydrocarbon receptor interacting protein ( AIP , also known as HBV x‐associated protein 2 , XAP2 , and AH receptor‐activated 9 , ARA9 ; Trivellin & Korbonits, 2011) (Figure 4). While the roles of AIP are not precisely known and may vary by species and life stage, it is known to modulate the function of AHR signaling (Petrulis, Kusnadi, Ramadoss, Hollingshead, & Perdew, 2003), and influences DLC toxicity (Nukaya, Lin, et al., 2010).…”

Section: Genetic Basis Of Pollution Tolerance In Killifishmentioning

confidence: 99%

When evolution is the solution to pollution: Key principles, and lessons from rapid repeated adaptation of killifish (Fundulus heteroclitus) populations

Whitehead

Clark

Reid

et al. 2017

Evolutionary Applications

108

102

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For most species, evolutionary adaptation is not expected to be sufficiently rapid to buffer the effects of human‐mediated environmental changes, including environmental pollution. Here we review how key features of populations, the characteristics of environmental pollution, and the genetic architecture underlying adaptive traits, may interact to shape the likelihood of evolutionary rescue from pollution. Large populations of Atlantic killifish (Fundulus heteroclitus) persist in some of the most contaminated estuaries of the United States, and killifish studies have provided some of the first insights into the types of genomic changes that enable rapid evolutionary rescue from complexly degraded environments. We describe how selection by industrial pollutants and other stressors has acted on multiple populations of killifish and posit that extreme nucleotide diversity uniquely positions this species for successful evolutionary adaptation. Mechanistic studies have identified some of the genetic underpinnings of adaptation to a well‐studied class of toxic pollutants; however, multiple genetic regions under selection in wild populations seem to reflect more complex responses to diverse native stressors and/or compensatory responses to primary adaptation. The discovery of these pollution‐adapted killifish populations suggests that the evolutionary influence of anthropogenic stressors as selective agents occurs widely. Yet adaptation to chemical pollution in terrestrial and aquatic vertebrate wildlife may rarely be a successful “solution to pollution” because potentially adaptive phenotypes may be complex and incur fitness costs, and therefore be unlikely to evolve quickly enough, especially in species with small population sizes.

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AIP and its interacting partners

Cited by 127 publications

References 151 publications

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

Interaction of Aryl Hydrocarbon Receptor-interacting Protein-like 1 with the Farnesyl Moiety

When evolution is the solution to pollution: Key principles, and lessons from rapid repeated adaptation of killifish (Fundulus heteroclitus) populations

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