Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus
We analyzed by SSCP the complete IRS‐1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043 (S1043Y), and to a Cys to Tyr substitution at codon 1095 (C1095Y) were detected in this patient. The results of sequential digestion with restrict...
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| Published in | Human mutation Vol. 11; no. 5; p. 411 |
|---|---|
| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Wiley Subscription Services, Inc., A Wiley Company
1998
John Wiley & Sons, Inc |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1059-7794 1098-1004 |
| DOI | 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU12>3.0.CO;2-# |
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| Abstract | We analyzed by SSCP the complete IRS‐1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043 (S1043Y), and to a Cys to Tyr substitution at codon 1095 (C1095Y) were detected in this patient. The results of sequential digestion with restriction enzymes indicated that the novel sequence variants segregate on the same allele. Relatives of patient #25 D were not available for study, to confirm segregation of the novel allele with NIDDM in the family. Several lines of evidence suggest that the non‐conservative amino acid substitutions detected in NIDDM patient #25 D have the potential to affect IRS‐1 functions and could play a pathogenic role in this patient. Both S1043Y and C1095Y occur in a highly conserved sequence from human skeletal muscle, human hepatoma, mouse, and rat IRS‐1. Protein subsequence analysis revealed that the S1043Y substitution abolishes a consensus sequence for glycogen synthase kinase 3 phosphorylation. Furthermore, S1043Y and C1095Y are not common IRS‐1 polymorphisms as they were detected only in 1/136 chromosomes from NIDDM patients (allele frequency in NIDDM patients = 0.007) and in 0/120 chromosomes from control subjects. Hum Mutat 11:411, 1998. © 1998 Wiley‐Liss, Inc. |
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| AbstractList | We analyzed by SSCP the complete IRS-1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043 (S1043Y), and to a Cys to Tyr substitution at codon 1095 (C1095Y) were detected in this patient. The results of sequential digestion with restriction enzymes indicated that the novel sequence variants segregate on the same allele. Relatives of patient #25 D were not available for study, to confirm segregation of the novel allele with NIDDM in the family. Several lines of evidence suggest that the non-conservative amino acid substitutions detected in NIDDM patient #25 D have the potential to affect IRS-1 functions and could play a pathogenic role in this patient. Both S1043Y and C1095Y occur in a highly conserved sequence from human skeletal muscle, human hepatoma, mouse, and rat IRS-1. Protein subsequence analysis revealed that the S1043Y substitution abolishes a consensus sequence for glycogen synthase kinase 3 phosphorylation. Furthermore, S1043Y and C1095Y are not common IRS-1 polymorphisms as they were detected only in 1/136 chromosomes from NIDDM patients (allele frequency in NIDDM patients = 0.007) and in 0/120 chromosomes from control subjects. Hum Mutat 11:411, 1998. © 1998 Wiley-Liss, Inc. We analyzed by SSCP the complete IRS-1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043 (S1043Y), and to a Cys to Tyr substitution at codon 1095 (C1095Y) were detected in this patient. The results of sequential digestion with restriction enzymes indicated that the novel sequence variants segregate on the same allele. Relatives of patient #25 D were not available for study, to confirm segregation of the novel allele with NIDDM in the family. Several lines of evidence suggest that the non-conservative amino acid substitutions detected in NIDDM patient #25 D have the potential to affect IRS-1 functions and could play a pathogenic role in this patient. Both S1043Y and C1095Y occur in a highly conserved sequence from human skeletal muscle, human hepatoma, mouse, and rat IRS-1. Protein subsequence analysis revealed that the S1043Y substitution abolishes a consensus sequence for glycogen synthase kinase 3 phosphorylation. Furthermore, S1043Y and C1095Y are not common IRS-1 polymorphisms as they were detected only in 1/136 chromosomes froth NIDDM patients (allele frequency in NIDDM patients = 0.007) and in 0/120 chromosomes from control subjects. |
| Author | Creati, Beatrice Battista, Pasquale Mammarella, Sandra Cama, Alessandro Caramia, Felice Giacomo Capani, Fabio Arcuri, Paola Esposito, Diana L. Della Loggia, Fulvio Mariani-Costantini, Renato |
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| Cites_doi | 10.2337/diabetes.45.5.563 10.1002/humu.1380030320 10.1007/BF00410287 10.1038/372182a0 10.1172/JCI118705 10.1016/0006-291X(92)91640-C 10.1038/352073a0 10.2337/diabetes.42.7.1041 10.1016/S0140-6736(95)92779-4 10.1016/0167-4781(93)90222-Y 10.1016/0140-6736(93)92694-O 10.1074/jbc.271.19.11222 10.1210/jc.79.6.1655 10.1038/377173a0 10.1002/(SICI)1098-1004(1996)7:4<364::AID-HUMU13>3.0.CO;2-0 10.1172/JCI117429 10.1016/0140-6736(93)92793-S 10.1016/S0021-9258(17)42297-6 10.1002/(SICI)1096-9136(199602)13:2<133::AID-DIA7>3.0.CO;2-2 10.1016/S0021-9258(17)37568-3 10.1006/bbrc.1994.1951 10.1038/372186a0 10.1210/jc.81.4.1657 |
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Diabetes 45: 563-568 MEDLINE UID: 96198494 Sigal RJ, Doria A, Warram JH, Krolewski AS (1996) Codon 972 polymorphism in the insulin receptor substrate-1 gene, obesity, and risk of noninsulin-dependent diabetes mellitus. J Clin Endocrinol Metab 81: 1657-1659. MEDLINE UID: 96186182 Araki E, Lipes MA, Patti ME, Bruning JC, Haag III B, Johnson RS, Kahn CR (1994) Alternative pathway of insulin signalling in mice with targeted disruption of the IRS-1 gene. Nature 372: 186-190. MEDLINE UID: 95059431 Cama A, Palmirotta R, Esposito D, Curia MC, Ranieri A, Ficari F, Valanzano R, Battista P, Frati L, Tonelli F, Mariani-Costantini R (1994) A novel deletion in exon 15 of the APC gene in an Italian FAP kindred Hum Mutat 3: 301-304. MEDLINE UID: 94290504 Almind K, Bjorbaek C, Vestergaard H, Hansen T, Echwald S, Pedersen O (1993) Amino acid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus. Lancet 342: 828-832. MEDLINE UID: 93390176 1991; 352 1992; 183 1994; 202 1994; 269 1995; 38 1994; 372 1993; 42 1996; 271 1995; 346 1994; 79 1995; 377 1993; 1172 1996; 81 1996; 13 1994; 3 1994; 94 1996; 97 1996; 45 1993; 342 1996; 7 Tanti JF (e_1_2_1_23_1) 1994; 269 e_1_2_1_7_1 e_1_2_1_8_1 e_1_2_1_20_1 White MF (e_1_2_1_24_1) 1994; 269 e_1_2_1_5_1 e_1_2_1_6_1 e_1_2_1_3_1 e_1_2_1_12_1 e_1_2_1_4_1 e_1_2_1_13_1 e_1_2_1_10_1 e_1_2_1_21_1 e_1_2_1_2_1 e_1_2_1_11_1 e_1_2_1_22_1 e_1_2_1_16_1 e_1_2_1_17_1 e_1_2_1_14_1 e_1_2_1_15_1 e_1_2_1_9_1 e_1_2_1_18_1 e_1_2_1_19_1 |
| References_xml | – reference: Araki E, Sun XJ, Haag BL, Chuang LM, Zhang Y, Yang-Feng TL, White MF, Kahn CR (1993) Human skeletal muscle insulin receptor substrate-1. Characterization of the cDNA, gene, and chromosomal localization. Diabetes 42: 1041-1054. MEDLINE UID: 93292738 – reference: Nishiyama M and Wands JR (1992) Cloning and increased expression of an insulin receptor substrate-1-like gene in human hepatocellular carcinoma. Biochem Biophys Res Commun 183: 280-285. MEDLINE UID: 92181456 – reference: Laakso M, Malkki M, Kekalainen P, Kuusisto J, Deeb SS (1994) Insulin receptor substrate-1 variants in non-insulin-dependent diabetes. J Clin Invest 94: 1141-1146. MEDLINE UID: 94365181 – reference: Almind K, Bjorbaek C, Vestergaard H, Hansen T, Echwald S, Pedersen O (1993) Amino acid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus. Lancet 342: 828-832. MEDLINE UID: 93390176 – reference: Clausen JO, Hansen T, Bjorbaek C, Echwald SM, Urhammer SA, Rasmussen S, Andersen CB, Hansen L, Almind K, Winther K, Haraldsdottir J, Borch-Johnsen K, Pedersen O (1995) Insulin resistance: interactions between obesity and a common variant of insulin receptor substrate-1. Lancet 346: 397-402. MEDLINE UID: 95349274 – reference: Stern MP, Mitchell BD, Blangero J, Reinhart L, Krammerer CM, Harrison CR, Shipman PA, O'Connell P, Frazier ML, MacCluer JW (1996) Evidence for a major gene for type II diabetes and linkage analyses with selected candidate genes in Mexican-Americans. Diabetes 45: 563-568 MEDLINE UID: 96198494 – reference: Tanti JF, Grémeaux T, van Obberghen E, Le Marchand-Brustel Y (1994) Serine/threonine phosphorylation of insulin receptor substrate 1 modulates insulin receptor signalling. J Biol Chem 269: 6051-6057. 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Characterization of the cDNA, gene, and chromosomal localization publication-title: Diabetes – volume: 7 start-page: 364 year: 1996 end-page: 366 article-title: Deletion of Gly723 in the insulin receptor substrate of a patient with non‐insulin dependent diabetes mellitus publication-title: Hum Mutat – volume: 269 start-page: 6051 year: 1994 end-page: 6057 article-title: Serine/threonine phosphorylation of insulin receptor substrate 1 modulates insulin receptor signalling publication-title: J Biol Chem – volume: 372 start-page: 182 year: 1994 end-page: 186 article-title: Insulin resistance and growth retardation in mice lacking insulin receptor substrate‐1 publication-title: Nature – volume: 183 start-page: 280 year: 1992 end-page: 285 article-title: Cloning and increased expression of an insulin receptor substrate‐1‐like gene in human hepatocellular carcinoma publication-title: Biochem Biophys Res Commun – volume: 45 start-page: 563 year: 1996 end-page: 568 article-title: Evidence for a major gene for type II diabetes and linkage analyses with selected candidate genes in Mexican‐Americans publication-title: Diabetes – volume: 79 start-page: 1655 year: 1994 end-page: 1658 article-title: Variant sequences of insulin receptor substrate‐1 in patients with noninsulin‐dependent diabetes mellitus publication-title: J Clin Endocrinol Metab – volume: 13 start-page: 133 year: 1996 end-page: 138 article-title: Human insulin receptor substrate‐1: variant sequences in familial non‐insulin‐dependent diabetes mellitus publication-title: Diabet Med – volume: 38 start-page: 481 year: 1995 end-page: 486 article-title: Insulin receptor substrate‐ 1 gene mutations in NIDDM; implications for the study of polygenic disease publication-title: Diabetologia – ident: e_1_2_1_19_1 doi: 10.2337/diabetes.45.5.563 – ident: e_1_2_1_7_1 doi: 10.1002/humu.1380030320 – ident: e_1_2_1_11_1 doi: 10.1007/BF00410287 – ident: e_1_2_1_22_1 doi: 10.1038/372182a0 – ident: e_1_2_1_3_1 doi: 10.1172/JCI118705 – ident: e_1_2_1_16_1 doi: 10.1016/0006-291X(92)91640-C – ident: e_1_2_1_20_1 doi: 10.1038/352073a0 – ident: e_1_2_1_4_1 doi: 10.2337/diabetes.42.7.1041 – ident: e_1_2_1_8_1 doi: 10.1016/S0140-6736(95)92779-4 – ident: e_1_2_1_13_1 doi: 10.1016/0167-4781(93)90222-Y – ident: e_1_2_1_2_1 doi: 10.1016/0140-6736(93)92694-O – ident: e_1_2_1_15_1 doi: 10.1074/jbc.271.19.11222 – ident: e_1_2_1_12_1 doi: 10.1210/jc.79.6.1655 – ident: e_1_2_1_21_1 doi: 10.1038/377173a0 – ident: e_1_2_1_9_1 doi: 10.1002/(SICI)1098-1004(1996)7:4<364::AID-HUMU13>3.0.CO;2-0 – ident: e_1_2_1_14_1 doi: 10.1172/JCI117429 – ident: e_1_2_1_10_1 doi: 10.1016/0140-6736(93)92793-S – volume: 269 start-page: 1 year: 1994 ident: e_1_2_1_24_1 article-title: The insulin signalling system publication-title: J Biol Chem doi: 10.1016/S0021-9258(17)42297-6 – ident: e_1_2_1_6_1 doi: 10.1002/(SICI)1096-9136(199602)13:2<133::AID-DIA7>3.0.CO;2-2 – volume: 269 start-page: 6051 year: 1994 ident: e_1_2_1_23_1 article-title: Serine/threonine phosphorylation of insulin receptor substrate 1 modulates insulin receptor signalling publication-title: J Biol Chem doi: 10.1016/S0021-9258(17)37568-3 – ident: e_1_2_1_17_1 doi: 10.1006/bbrc.1994.1951 – ident: e_1_2_1_5_1 doi: 10.1038/372186a0 – ident: e_1_2_1_18_1 doi: 10.1210/jc.81.4.1657 |
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| Snippet | We analyzed by SSCP the complete IRS‐1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043... We analyzed by SSCP the complete IRS-1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043... |
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| SubjectTerms | IRS-1: Insulin receptor substrate-1 gene NIDDM: Noninsulin dependent diabetes mellitus OMIM 125853 SSCP: Single strand conformation polymorphism |
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| Title | Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus |
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