Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1641-1650

  Mehenni, Hamid ^a   Gehrig, Corinne ^a   Nezu, Jun Ichi ^d   Oku, Asuka ^d   Shimane, Miyuki ^d   Rossier, Colette ^a   Guex, Nicolas ^b   Blouin, Jean Louis ^c   Scott, Hamish S ^a   Antonarakis, Stylianos E ^a,c,e  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b GlaxoSmithKline   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^d CHUGAI PHARMACEUTICAL CO LTD   (Japan)

^e Centre médical universitaire   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN KINASE;

ALLELISM; ARTICLE; CHROMOSOME 19P; CHROMOSOME 19Q; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME CONFORMATION; GENETIC LINKAGE; HETEROZYGOSITY LOSS; HUMAN; NUCLEOTIDE SEQUENCE; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL;

EID: 0032471851     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302159     Document Type: Article

References (32)

1. Amos CI, Ball D, Thiel TJ, Andersen JP, Gourley I, Frazier ML, Lynch PM, et al. (1997) Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. Cancer Res 57:3653-3656
2. Avizienyte E, Roth S, Loukola A, Hemminki A, Lothe RA, Stenwig AE, Fossa SD, et al. (1998) Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. Cancer Res 58:2087-2090
3. Bignell GR, Barfoot R, Seal S, Collins N, Warren W, Stratton MR (1998) Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer. Cancer Res 58:1384-1386
4. Blundell T, Sibanda BL, Sternberg MJ, Thornton JM (1987) Knowledge-base prediction of protein structures and the design of novel molecules. Nature 326:347-352
5. Brooks BR, Bruccoleri RE, Olafson BD, States DJ, Swaminathan S, Karplus M (1983) CHARMM: a program for macromolecular energy, minimization, and dynamics calculations. J Comp Chem 4:187-217
6. Cooper DN, Krawczak M, Antonarakis SE (1995) The nature and mechanisms of human gene mutations. In: Scriver CR, Beaudet al., Sly,WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th ed. McGraw-Hill, New York, pp 259-291
7. Eng C, Mulligan LM (1997) Mutations of the RET protooncogene in the multiple endocrine neoplasia type 2 syndrome, related sporadic tumors, and Hirschsprung disease, Hum Mutat 9:97-109
8. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, et al (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316:1511-1514
9. Guex N, Peitsch MC (1997) Swiss-MODEL and the SwissPdbViewer: an environment for comparative protein modelling. Electrophoresis 18:2714-2723
10. Hanks SK, Hunter T (1995) Protein kinases 6: the eukaryotic protein kinase superfamily; kinase (catalytic) domain structure and classification. FASEB J 9:576-596
11. 2+/S100 regulation of giant protein kinases. Nature 380:636-639
12. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, et al. (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391:184-187
13. Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist AM, Knuutila S, et al (1997) Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 15:87-90
14. Jeghers H, McKusick VA, Katz KH (1949) Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. N Engl J Med 241:992-1005
15. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Muller O, et al. (1998) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18:38-43
16. Kinzler KW, Vogelstein B (1998) Landscaping the cancer terrain. Science 280:1036-1037
17. Kobe B, Heierhorst J, Feil SC, Parker MW, Benian GM, Weiss KR, Kemp BE (1996) Giant protein kinases: domain interactions and structural basis of autoregulation. EMBO J 15:6810-6821
18. Lawrie M, Noble ME, Tunnah P, Brown NR, Johnson LN, Endicott JA (1997) Protein kinase inhibition by staurosporine revealed in details of the molecular interaction with CDK2. Nat Struct Biol 4:796-801
19. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Pue J, et al. (1997) PTEN: a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275:1943-1947
20. Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K, Dixit VB, Richards KF, et al (1997) Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet 61:1327-1334
21. Nakagawa H, Koyama K, Tanaka T, Miyoshi Y, Ando H, Baba S, Watatani M, et al. (1998) Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3. Hum Genet 102:203-206
22. Olschwang S, Markie D, Seal S, Neale K, Phillips R, Cottrell S, Ellis I, et al. (1998) Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. J Med Genet 35:42-44
23. Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA (1986) Splicing of messenger RNA precursors. Annu Rev Biochem 55:1119-1150
24. Peitsch MC (1996) Promod and Swiss-model: internet-based tools for automated protein modelling. Biochem Soc Trans 24:274-279
25. Peutz JL (1921) On a very remarkable case of familial polyposis of the mucous membrane of the intestinal tract and nasopharynx accompanied by peculiar pigmentation of the skin and mucous membrane. Ned Tijdschr Geneeskd 10:134-146
26. Ponder JW, Richards FM (1987) Tertiary templates for proteins: use of packing criteria in the enumeration of allowed sequences for different structural classes. J Mol Biol 193:775-791
27. Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, et al. (1997) Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet 16:68-73
28. Spigelman AD, Murday V, Phillips RK (1989) Cancer and the Peutz-Jeghers syndrome. Gut 30:1588-1590
29. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, et al. (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15:356-362
30. Su JY, Erikson E, Maller JL (1996) Cloning and characterization of a novel serine/threonine protein kinase expressed in early Xenopus embryos. J Biol Chem 271:14430-14437
31. Zheng J, Knighton DR, ten Eyck LF, Karlsson R, Xuong N, Taylor SS, Sowadski JM (1993) Crystal structure of the catalytic subunit of cAMP-dependent protein kinase complexed with MgATP and peptide inhibitor. Biochemistry 32:2154-2161
32. Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N, et al. (1996) Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12:97-99