publication . Article . 2017

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction & stability and is associated with gigantism.

Salvatori, R.; Radian, S.; Diekmann, Y.; Iacovazzo, D.; David, A.; Grabovska, P.; Grassi, G.; Bussell, A-M; Stals, K.; Weber, A.; ...
Open Access
  • Published: 20 Jun 2017
  • Country: United Kingdom
Abstract
OBJECTIVE: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events. DESIGN & METHODS: Observational, inferential and experimental study, including: AIP mutation testing; reconstruction of 14 AIP-region (8.3 Mbp) haplotypes; coalescent-based approximate Bayesian estimation of the time to most recent common ancestor (tMRCA) of the derived allele; forward population simulations to estimate current number of allele carriers; proposal of mutation mechanism; protei...
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UCL Discovery
Article . 2017
37 references, page 1 of 3

1 Beckers A, Aaltonen LA, Daly AF & Karhu A. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocrine Reviews 2013 34 239-277. (doi:10.1210/er.2012-1013)

2 Daly AF, Tichomirowa MA, Petrossians P, Heliovaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. Journal of Clinical Endocrinology and Metabolism 2010 95 E373-E383. (doi:10.1210/jc.2009-2556)

3 Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J et al. The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 2008 93 2390-2401. (doi:10.1210/jc.2007-2611)

4 Linnert M, Haupt K, Lin YJ, Kissing S, Paschke AK, Fischer G, Weiwad M & Lucke C. NMR assignments of the FKBP-type PPIase domain of the human aryl-hydrocarbon receptor-interacting protein (AIP). Biomolecular NMR Assignments 2012 6 209-212. (doi:10.1007/ s12104-012-9359-0) [OpenAIRE]

5 Morgan RM, Hernandez-Ramirez LC, Trivellin G, Zhou L, Roe SM, Korbonits M & Prodromou C. Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal alpha-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. PLoS ONE 2012 7 e53339. (doi:10.1371/journal. pone.0053339)

6 Trivellin G & Korbonits M. AIP and its interacting partners. Journal of Endocrinology 2011 210 137-155. (doi:10.1530/JOE-11-0054)

7 Chahal HS, Chapple JP, Frohman LA, Grossman AB & Korbonits M. Clinical genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends in Endocrinology and Metabolism 2010 21 419-427. (doi:10.1016/j.tem.2010.02.007)

8 Villa C, Lagonigro MS, Magri F, Koziak M, Jaffrain-Rea ML, Brauner R, Bouligand J, Junier MP, Di Rocco F, Sainte-Rose C et al. Hyperplasiaadenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation. EndocrineRelated Cancer 2011 18 347-356. (doi:10.1530/ERC-11-0059)

9 Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K et al. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Human Mutation 2010 31 950-960. (doi:10.1002/humu.21292)

10 Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA et al. AIP mutation in pituitary adenomas in the 18th century and today. New England Journal of Medicine 2011 364 43-50. (doi:10.1056/ NEJMoa1008020) [OpenAIRE]

11 Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M et al. Increased population risk of AIP-related acromegaly and gigantism in Ireland. Human Mutation 2017 38 78-85. (doi:10.1002/humu.23121)

12 Occhi G, Jaffrain-Rea ML, Trivellin G, Albiger N, Ceccato F, De Menis E, Angelini M, Ferasin S, Beckers A, Mantero F et al. The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: mutational hot-spot or founder effect? Journal of Endocrinological Investigation 2010 33 800-805. (doi:10.1007/BF03350345)

13 Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A & Chanson P. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. Journal of Clinical Endocrinology and Metabolism 2012 97 E663-E670. (doi:10.1210/ jc.2011-2291)

14 Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006 312 1228-1230. (doi:10.1126/ science.1126100) [OpenAIRE]

15 Stephens M, Smith NJ & Donnelly P. A new statistical method for haplotype reconstruction from population data. American Journal of Human Genetics 2001 68 978-989. (doi:10.1086/319501)

37 references, page 1 of 3
Abstract
OBJECTIVE: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events. DESIGN & METHODS: Observational, inferential and experimental study, including: AIP mutation testing; reconstruction of 14 AIP-region (8.3 Mbp) haplotypes; coalescent-based approximate Bayesian estimation of the time to most recent common ancestor (tMRCA) of the derived allele; forward population simulations to estimate current number of allele carriers; proposal of mutation mechanism; protei...
Download from
UCL Discovery
Article . 2017
37 references, page 1 of 3

1 Beckers A, Aaltonen LA, Daly AF & Karhu A. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocrine Reviews 2013 34 239-277. (doi:10.1210/er.2012-1013)

2 Daly AF, Tichomirowa MA, Petrossians P, Heliovaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. Journal of Clinical Endocrinology and Metabolism 2010 95 E373-E383. (doi:10.1210/jc.2009-2556)

3 Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J et al. The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 2008 93 2390-2401. (doi:10.1210/jc.2007-2611)

4 Linnert M, Haupt K, Lin YJ, Kissing S, Paschke AK, Fischer G, Weiwad M & Lucke C. NMR assignments of the FKBP-type PPIase domain of the human aryl-hydrocarbon receptor-interacting protein (AIP). Biomolecular NMR Assignments 2012 6 209-212. (doi:10.1007/ s12104-012-9359-0) [OpenAIRE]

5 Morgan RM, Hernandez-Ramirez LC, Trivellin G, Zhou L, Roe SM, Korbonits M & Prodromou C. Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal alpha-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. PLoS ONE 2012 7 e53339. (doi:10.1371/journal. pone.0053339)

6 Trivellin G & Korbonits M. AIP and its interacting partners. Journal of Endocrinology 2011 210 137-155. (doi:10.1530/JOE-11-0054)

7 Chahal HS, Chapple JP, Frohman LA, Grossman AB & Korbonits M. Clinical genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends in Endocrinology and Metabolism 2010 21 419-427. (doi:10.1016/j.tem.2010.02.007)

8 Villa C, Lagonigro MS, Magri F, Koziak M, Jaffrain-Rea ML, Brauner R, Bouligand J, Junier MP, Di Rocco F, Sainte-Rose C et al. Hyperplasiaadenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation. EndocrineRelated Cancer 2011 18 347-356. (doi:10.1530/ERC-11-0059)

9 Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K et al. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Human Mutation 2010 31 950-960. (doi:10.1002/humu.21292)

10 Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA et al. AIP mutation in pituitary adenomas in the 18th century and today. New England Journal of Medicine 2011 364 43-50. (doi:10.1056/ NEJMoa1008020) [OpenAIRE]

11 Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M et al. Increased population risk of AIP-related acromegaly and gigantism in Ireland. Human Mutation 2017 38 78-85. (doi:10.1002/humu.23121)

12 Occhi G, Jaffrain-Rea ML, Trivellin G, Albiger N, Ceccato F, De Menis E, Angelini M, Ferasin S, Beckers A, Mantero F et al. The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: mutational hot-spot or founder effect? Journal of Endocrinological Investigation 2010 33 800-805. (doi:10.1007/BF03350345)

13 Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A & Chanson P. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. Journal of Clinical Endocrinology and Metabolism 2012 97 E663-E670. (doi:10.1210/ jc.2011-2291)

14 Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006 312 1228-1230. (doi:10.1126/ science.1126100) [OpenAIRE]

15 Stephens M, Smith NJ & Donnelly P. A new statistical method for haplotype reconstruction from population data. American Journal of Human Genetics 2001 68 978-989. (doi:10.1086/319501)

37 references, page 1 of 3
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