Variable number tandem repeat polymorphism of the mucin genes located in the complex on 11p15.5

Human Genetics

Volumn 102, Issue 3, 1998, Pages 357-366

  Vinall, Lynne E ^a   Hill, Alexander S ^a   Pigny, Pascal ^b,c   Pratt, Wendy S ^a   Toribara, Neil ^d   Gum, James R ^d   Kim, Young S ^d   Porchet, Nicole ^b,c,e   Aubert, Jean Pierre ^b,c   Swallow, Dallas M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b INSERM   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIV LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MUCIN; POLYPEPTIDE; SERINE; THREONINE;

ALLELE; ARTICLE; CHROMOSOME 11P; CONTROLLED STUDY; DNA POLYMORPHISM; DNA RECOMBINATION; DNA SEQUENCE; FEMALE; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MEIOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE HOMOLOGY; VARIABLE NUMBER OF TANDEM REPEAT;

CHILD; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENE FREQUENCY; GENES; HUMANS; MALE; MINISATELLITE REPEATS; MUCINS; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 18344415032     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050705     Document Type: Article

References (42)

1. Baird M, Balazs L, Giusti A, Miyazaki L, Nicholas L, Wexler K, Kanter E, Glassberg J, Allen F, Rubenstein P, Soussman L (1986) Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity. Am J Hum Genet 39:489-501
2. Brunner C, Lobentanz E-M, Petho Schramm A, Ernst A, Kang C, Dieplinger H, Muller HJ, Uterman G (1996) The number of identical Kringle IV repeats in Apolipoprotein (a) affects its processing and secretion by HepG2 cells. J Biol Chem 271:32403-32410
3. Debailleul V, Laine A, Huet G, Mathon P, Collyn d'Hooghe M, Aubert JP, Porchet N (1998) Human mucin genes MUC2, MUC3, MUC4, MUC5AC, MUC5B and MUC6 express stable and extremely large mRNAs and exhibit a variable length polymorphism. An improved method to analyse large size RNAs. J Biol Chem 273:881-890
4. Desseyn J-L, Guyonnet-Dupérat V, Porchet N, Aubert J-P, Laine A (1997) Human mucin gene MUC5B, the large central exon encodes various alternate subdomains resulting in a super-repeat. Structural evidence for a 11p15.5 gene family. J Biol Chem 272:3168-3178
5. Desseyn J-L, Buisine M-E Porchet N, Aubert J-P, Degand P, Laine A (1998) Evolutionary history of the 11p15.5 human mucin gene family. J Mol Evolution 46:102-106
6. Dufossé J, Porchet N, Audié JP, Guyonnet DV, Laine A, Van Seuningen I, Marrakchi S, Degand P, Aubert JP (1993) Degenerate 87-base-pair tandem repeats create hydrophilic/hydrophobic alternating domains in human mucin peptides mapped to 11p15. Biochem J 293:329-337
7. Ellsworth DL, Shriver MD, Boerwinkle E (1995) Nucleotide sequence analysis of the apolipoprotein B 3′ VNTR. Hum Mol Genet 4:937-944
8. Fox MF, Lahbib F, Pratt W, Attwood J, Gum JR, Kim Y, Swallow DM (1992) Regional localisation of the intestinal mucin gene MUC3 to chromosome 7q22. Ann Hum Genet 56:281-287
9. Gendler SJ, Spicer AP (1995) Epithelial mucin genes. Annu Rev Physiol 57:607-634
10. Gendler S, Taylor-Papadimitriou J, Duhig T, Rothbard J, Burchell J (1988) A highly immunogenic region of a human polymorphic epithelial mucin expressed by carcinomas is made up of tandem repeats. J Biol Chem 263:12820-12823
11. Griffiths B, Mathews DJ, West L, Attwood J, Povey S, Swallow DM, Gum JR, Kim YS (1990) Assignment of the polymorphic intestinal mucin gene (MUC2) to chromosome 11p15. Ann Hum Genet 54:277-285
12. Gross M-S, Guyonnet-Dupérat V, Porchet N, Bernheim A, Aubert J, P, Nguyen VC (1992) Mucin 4 (MUC4) gene: regional assignment (3q29) and RFLP analysis. Ann Genet 35:21-26
13. Gum JR, Byrd JC, Hicks JW, Toribara NW, Lamport D, Kim YS (1989) Molecular cloning of human intestinal mucin cDNAs. Sequence analysis and evidence for genetic polymorphism. J Biol Chem 264:6480-6487
14. Gum JR, Hicks JW, Toribara NW, Siddiki B, Kim YS (1994) Molecular cloning of human intestinal mucin (MUC2) cDNA - identification of the amino-terminus and overall sequence similarity to pre-pro von-Willi brand, J Biol Chem 269:2440-2446
15. Guyonnet-Dupérat, V, Audié J-P. Debailleul V, Laine A, Buisine M-P, Galiègue-Zouitina S, Pigny P, Degand P, Aubert J-P, Porchet N (1995) Characterization of the human mucin gene MUC5AC: a consensus cysteine-rich domain for 11 p15 mucin genes? Biochem J 305:211-219
16. Hansson GC, Baeckstrom D, Carlstedt I, Klinga-Levan K (1994) Molecular cloning of a cDNA coding for a region of an apoprotein from the 'insoluble' mucin complex of rat small intestine. Biochem Biophys Res Commun 198:181-190
17. Hoffmann W, Hauser F (1993) Biosynthesis of frog-skin mucins cysteine-rich shuffled modules, polydispersities and genetic polymorphism. Comp Biochem Physiol. Biochem Mol Biol 105: 465-472
18. Jeffreys AJ, Tamaki K, MacLeod A, Monckton DG, Neil DL, Armour JAL (1994) Complex gene conversion events in germline mutation at human minisatellites. Nat Genet 6:136-145
19. Karlsson S, Swallow DM, Griffiths B, Corney G, Hopkinson DA (1983) A genetic polymorphism of a human urinary mucin. Ann Hum Genet 47:263-269
20. Keates AC, Nunes DP, Afdhal NH, Troxler RF, Offner GD (1997) Molecular cloning of a major human gall bladder mucin: complete C-terminal sequence and genomic organisation of MUC5B, Biochem J 324:295-303
21. Khatri I, Forstner G, Forstner J (1993) Suggestive evidence for two different mucin genes in rat intestine. Biochem J 294:391-399
22. Klomp LWJ, Rens L Van, Strous GJ (1995) Cloning and analysis of human gastric mucin cDNA reveals two types of conserved cysteine-rich domains. Biochem J 308:381-38
23. Lesuffleur T, Roche F, Hill AS, Lacasa M, Fox M, Swallow DM, Zweibaum A. Real FX (1995) Characterization of a mucin cDNA clone isolated from HT-29 mucus-secreting cells. The 3′ end of MUC5AC? J Biol Chem 270:13665-13673
24. Martinson JJ, Harding RM, Philippen G, Flye Sainte-Marie F, Roux J, Boyce AJ, Clegg JB (1993) Demographic reductions and genetic bottlenecks in humans: minisatellite allelic distributions in Oceania. Hum Genet 91:445-450
25. Meerzaman D, Charles P, Daskal E, Polymeropoulos MH, Martin BM, Rose MC (1994) Cloning and analysis of cDNA encoding a major airway glycoprotein human tracheobronchial mucin (MUC5). J Biol Chem 269:12932-12939
26. Meitingcr T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J (1993) Molecular modelling of the Norrie disease protein predicts a cysteine knot growth factor tertiary structure. Nat Genet 5:376-380
27. Ohmori H, Dohrman A, Gallup M, Tsuda T, Kai H, Gum J, Kim Y, Basbaum C (1994) Molecular-cloning of the amino-terminal region of a rat muc-2 mucin gene homolog - evidence for expression in both intestine and airway. J Biol Chem 269:17833-17840
28. Pigny P, Pratt WS, Laine A, Leclercq A. Swallow DM, Nguyen VC, Porchet N, Aubert J-P (1995) The MUC5AC gene: RFLP analysis with the Jer 58 probe. Hum Genet 96:367-368
29. Pigny P, Guyonnet-Dupérat V, Hill AS, Pratt WS, Vinall L, Galiègue-Zouitina S. Collyn D'Hooge M, Laine A, Van-Seuningen I, Gum J, Toribara N, Kim YS, Swallow DM, Aubert JP, Porchet N (1996a) Genetical and physical mapping of the mucin gene cluster on 11p15.5. Cytogenet Cell Genet 74:55
30. Pigny P, Guyonnet-Dupérat V, Hill AS, Pratt WS, Galiègue-Zouitina S, Collyn d'Hooge M, Laine A, Van-Seuningen I, Degand P, Gum JR, Kim YS, Swallow DM, Aubert J-P, Porchet N (1996b) Human mucin genes assigned to 11p15.5: identification and organisation of a cluster of genes. Genomics 38:340-352
31. Pratt WS, Islam I, Swallow DM (1996) Two additional polymorphisms within the hypervariable MUC1gene: association of alleles either side of the VNTR region. Ann Hum Genet 60:21-28
32. Shankar V, Pichan P, Eddy RL, Tonk V, Nowak N, Sait SNJ, Shows TB, Schultz RE, Gotway G, Elkins RC, Gilmore MS, Sachdev GP (1997) Chromosomal localisation of a human mucin gene (MUC8) and cloning of the cDNA corresponding to the carboxy terminus. Am J Respir Physiol Cell Biol 16:232-241
33. Sheehan J (1995) Glycobiology Group .Colloquium. Mucins: their structure and biology. Biochem Soc Trans 23:795-852
34. Spurr NK, Bryant SP, Attwood J, Nyberg K, Cox SA, Mills A, Bains R, Warne D, Cullin L. Povey S, Sebaoun J-M, Weissenbach J, Cann HM, Lathrop M, Dausset J, Marcadet-Troton A, Cohen D (1994). European Gene Mapping Project (EUROGEM): genetic maps based on the CEPH reference families, Eur J Hum Genet 2:193-252
35. Swallow DM, Gendler S, Griffiths B, Corney G, Taylor-Papadimitriou J, Bramwell ME (1987) The human tumour-associated epithelial mucins are coded by an expressed hypervariable gene locus PUM. Nature 328:82-84
36. Toribara NW, Gum JJ, Culhane PJ, Lagace RE, Hicks JW, Petersen CM, Kim YS (1991) MUC-2 human small intestinal mucin gene structure. Repeated arrays and polymorphism. J Clin Invest 88:1005-1013
37. Toribara N, Roberton A, Ho S, Kuo W, Gum E, Hicks J, Gum JJ, Byrd J, Siddiki B, Kim Y (1993) Human gastric mucin. Identification of a unique species by expression cloning. J Biol Chem 268:5879-5885
38. Toribara NW, Ho SB, Gum E, Gum JR, Lau P, Kim YS (1997) The carboxyl-terminal sequence of the human secretory mucin, MUC6. J Biol Chem 272:16398-16403
39. Velcich A, Palumbo L, Selleri L, Evans G, Augenlicht L (1997) Organisation and regulatory aspects of the human intestinal mucin gene (MUC2) locus. J Biol Chem 272:7968-7976
40. Vergnaud G, Mariat D, Apio F, Ayrias A, Lathrop M, Lauthier V (1991) The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a hypermutable sequence. Genomics 11:135-144
41. Wolff RK, Nakamura Y, White R (1988) Molecular characterisation of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence. Genomics 3:347-351
42. Wolff RK, Plaetke R, Jeffreys AJ, White R (1989) Unequal crossing over between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci. Genomics 5:382-384