Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1242-310GT[8_13]

cDNA Name	c.1242-310GT[8_13]
Exon or Intron	intron 9
Legacy Exon or Intron	intron 8
Legacy Name	1342-265(GT)n
Other Details	The VNTR reported here is GT repeat of 17 times, located in intron 8 of the CFTR gene. Eight alleles (7 in CF and 6 in normal chromosomes) were detected amongst 188 unrelated CF carriers.
Contributors	Estivill X, Morral N 1990-10-02
Institute	Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Submitted Phenotype Details
Reference	Morral et al. 1991

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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Abe T, Ouyang H, Migita T, Kato Y, Kimura M, Shiiba K, Sunamura M, Matsuno S, Horii A The somatic mutation frequency of the transforming growth factor beta receptor type II gene varies widely among different cancers with microsatellite instability. 1996 010;22(5):474-7

Adam RD, Aggarwal A, Lal AA, de La Cruz VF, McCutchan T, Nash TE Antigenic variation of a cysteine-rich protein in Giardia lamblia. 1988 001 1;167(1):109-18

Aharoni A, Baran N, Manor H Characterization of a multisubunit human protein which selectively binds single stranded d(GA)n and d(GT)n sequence repeats in DNA. 1993 011 11;21(22):5221-8

Ahearn JM, Bartolomei MS, West ML, Cisek LJ, Corden JL Cloning and sequence analysis of the mouse genomic locus encoding the largest subunit of RNA polymerase II. 1987 008 5;262(22):10695-705

Aline R, MacDonald G, Brown E, Allison J, Myler P, Rothwell V, Stuart K (TAA)n within sequences flanking several intrachromosomal variant surface glycoprotein genes in Trypanosoma brucei. 1985 005 10;13(9):3161-77

Ambady S, Mendiola JR, Louis CF, Janzen MA, Schook LB, Buoen L, Lunney JK, Grimm DR, Ponce de Leon FA Development and use of a microdissected swine chromosome 6 DNA library. 1997;76(1-2):27-33

Angers B, Estoup A, Jarne P Microsatellite size homoplasy, SSCP, and population structure: a case study in the freshwater snail Bulinus truncatus. 2000 012;17(12):1926-32

Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot CC Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. 1993 006;52(6):1145-52

Areshchenkova T, Ganal MW Long tomato microsatellites are predominantly associated with centromeric regions. 1999 006;42(3):536-44

Arnold R, Maueler W, Bassili G, Lutz M, Burke L, Epplen TJ, Renkawitz R The insulator protein CTCF represses transcription on binding to the (gt)(22)(ga)(15) microsatellite in intron 2 of the HLA-DRB1(*)0401 gene. 2000 008 8;253(2):209-14

Arrufat FJ, Diaz R, Queralt R, Navarro V, Marcos T, Massana G, Massana J, Ballesta F, Oliva R Analysis of the polymorphic (GT)(n) repeat at the dopamine beta-hydroxylase gene in Spanish patients affected by schizophrenia. 2000 002 7;96(1):88-92

Atwood LD, Kammerer CM, Samollow PB, Hixson JE, Shade RE, MacCluer JW Linkage of essential hypertension to the angiotensinogen locus in Mexican Americans. 1997 009;30(3 Pt 1):326-30

Bachtrog D, Agis M, Imhof M, Schlotterer C Microsatellite variability differs between dinucleotide repeat motifs-evidence from Drosophila melanogaster. 2000 009;17(9):1277-85

Baiborodin SI, Baricheva EM, Bogachev SS, Borisevich IV, Strotz OV, Filippova MA, Sharakhov IV, Shilov AG A molecular and cytogenetic analysis of lambda 20p7 fragment DNA from the proximal beta-heterochromatin of Drosophila melanogaster. 1993 012 8;134(2):175-81

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Bell GI Evolution of simple sequence repeats. 1996 003;20(1):41-8

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Breckenridge DG, Watanabe Y, Greenwood SJ, Gray MW, Schnare MN U1 small nuclear RNA and spliceosomal introns in Euglena gracilis. 1999 002 2;96(3):852-6

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Butcher RD, Hubbard SF, Whitfield WG Microsatellite frequency and size variation in the parthenogenetic parasitic wasp Venturia canescens (Gravenhorst) (Hymenoptera: Ichneumonidae). 2000 008;9(4):375-84

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Charmley P, Concannon P Polymorphism and phylogeny of dinucleotide repeats in human T-cell receptor Vb6 genes. 1993;38(2):92-7

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Condit R, Hubbell SP Abundance and DNA sequence of two-base repeat regions in tropical tree genomes. 1991 002;34(1):66-71

Crouau-Roy B Trans-speciation maintenance in the MHC region of a polymorphism which includes a polymorphic dinucleotide locus, and the de novo arisal of a polymorphic tetranucleotide microsatellite. 1999 012;54(6):560-4

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Domingo-Roura X, Lopez-Giraldez T, Shinohara M, Takenaka O Hypervariable microsatellite loci in the Japanese macaque (Macaca fuscata) conserved in related species. 1997;43(4):357-60

Dufosse J, Porchet N, Audie JP, Guyonnet Duperat V, Laine A, Van-Seuningen I, Marrakchi S, Degand P, Aubert JP Degenerate 87-base-pair tandem repeats create hydrophilic/hydrophobic alternating domains in human mucin peptides mapped to 11p15. 1993 007 15;293 ( Pt 2):329-37

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Eckert KA, Yan G Mutational analyses of dinucleotide and tetranucleotide microsatellites in Escherichia coli: influence of sequence on expansion mutagenesis. 2000 007 15;28(14):2831-8

Ellegren H Abundant (A)n.(T)n mononucleotide repeats in the pig genome: linkage mapping of the porcine APOB, FSA, ALOX12, PEPN and RLN loci. 1993 010;24(5):367-72

Ender A, Schwenk K, Stadler T, Streit B, Schierwater B RAPD identification of microsatellites in Daphnia. 1996 006;5(3):437-41

Epp TA, Dixon IM, Wang HY, Sole MJ, Liew CC Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). 1993 012;18(3):505-9

Epplen C, Melmer G, Siedlaczck I, Schwaiger FW, Maueler W, Epplen JT On the essence of "meaningless" simple repetitive DNA in eukaryote genomes. 1993;67:29-45

Epplen C, Rumpf H, Albert E, Haas P, Truckenbrodt H, Epplen JT Immunoprinting excludes many potential susceptibility genes as predisposing to early onset pauciarticular juvenile chronic arthritis except HLA class II and TNF. 1995 008;22(4):311-22

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Epplen C, Santos EJ, Maueler W, van Helden P, Epplen JT On simple repetitive DNA sequences and complex diseases. 1997 008;18(9):1577-85

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Fields CA, Grady DL, Moyzis RK The human THE-LTR(O) and MstII interspersed repeats are subfamilies of a single widely distributed highly variable repeat family. 1992 006;13(2):431-6

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Fujiwara Y, Hoon DS Microsatellite analysis of melanoma lesions using (CA)13 oligonucleotides as an internal probe. 2000 010;17(4):783-7

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Giraldo R, Rhodes D The yeast telomere-binding protein RAP1 binds to and promotes the formation of DNA quadruplexes in telomeric DNA. 1994 005 15;13(10):2411-20

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Hermans PW, van Soolingen D, van Embden JD Characterization of a major polymorphic tandem repeat in Mycobacterium tuberculosis and its potential use in the epidemiology of Mycobacterium kansasii and Mycobacterium gordonae. 1992 006;174(12):4157-65

Heyer B, Schmidtke J, Stuhrmann M Analysis of microsatellite DNA using a non-radioactive method: blotting from polyacrylamide gel to nylon membrane using a gel dryer with subsequent hybridization to digoxigenin-labelled (dCdA)8 oligonucleotide probes. 1994 004;8(2):181-3

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Liu Z, Li P, Dunham RA Characterization of an A/T-rich family of sequences from channel catfish (Ictalurus punctatus). 1998 009;7(3):232-9

Livak KJ, Little WA, Stack SL, Patterson TA Polymorphisms in the human DNA ligase I gene (LIG1) including a complex GT repeat. 1998 011;406(1):1-8

Long M, Rosenberg C Testing the "proto-splice sites" model of intron origin: evidence from analysis of intron phase correlations. 2000 012;17(12):1789-96

Love JM, Knight AM, McAleer MA, Todd JA Towards construction of a high resolution map of the mouse genome using PCR-analysed microsatellites. 1990 007 25;18(14):4123-30

Lucy MC, Johnson GS, Shibuya H, Boyd CK, Herring WO Rapid communication: polymorphic (GT)n microsatellite in the bovine somatotropin receptor gene promoter. 1998 008;76(8):2209-10

Macina RA, Barr FG, Galili N, Riethman HC Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma. 1995 003 1;26(1):1-8

Magnani C, Cremonesi L, Belloni E, Ferrari M, Seia M, Russo MP, Devoto M, Ronchetto P, Romeo G Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population. 1994 003;45(3):135-9

Majewski J, Ott J GT repeats are associated with recombination on human chromosome 22. 2000 008;10(8):1108-14

Makunin IV, Zakharkin SO, Kokoza EV, Pokholkova GV, Kholodilov NG, Zhimulev IF [An analysis of the DNA sequence in the region of the breakpoint of the T(1;2)dor(var7) translocation inducing the mosaic-type position effect in Drosophila melanogaster]. 1996 001-002;30(1):8-14

Maragos C, Hutchison WM, Hayasaka K, Brown GK, Dahl HH Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. 1989 007 25;264(21):12294-8

Marshall DG, Coleman DC, Sullivan DJ, Xia H, O'Morain CA, Smyth CJ Genomic DNA fingerprinting of clinical isolates of Helicobacter pylori using short oligonucleotide probes containing repetitive sequences. 1996 011;81(5):509-17

Martinez JL, Moran P, Pendas AM, Taggart JB, Garcia-Vazquez E Genetic characterization and chromosomal location of a single locus GT microsatellite from Atlantic salmon. 1999 010;30(5):399-400

Maueler W, Bassili G, Arnold R, Renkawitz R, Epplen JT The (gt)n(ga)m containing intron 2 of HLA-DRB alleles binds a zinc-dependent protein and forms non B-DNA structures. 1999 001 8;226(1):9-23

Maueler W, Bassili G, Epplen C, Keyl HG, Epplen JT Protein binding to simple repetitive sequences depends on DNA secondary structure(s). 1999;7(3):163-6

Maueler W, Kyas A, Keyl HG, Epplen JT A genome-derived (gaa.ttc)24 trinucleotide block binds nuclear protein(s) specifically and forms triple helices. 1998 007 30;215(2):389-403

Medof ME, Lublin DM, Holers VM, Ayers DJ, Getty RR, Leykam JF, Atkinson JP, Tykocinski ML Cloning and characterization of cDNAs encoding the complete sequence of decay-accelerating factor of human complement. 1987 004;84(7):2007-11

Mellick GD, Buchanan DD, McCann SJ, James KM, Johnson AG, Davis DR, Liyou N, Chan D, Le Couteur DG Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease. 1999 003;14(2):219-24

Mellick GD, Buchanan DD, Silburn PA, Chan DK, Le Couteur DG, Law LK, Woo J, Pang CP The monoamine oxidase B gene GT repeat polymorphism and Parkinson's disease in a Chinese population. 2000 001;247(1):52-5

Meyer L, Brockmann G, Schwerin M, Seyfert HM A highly polymorphic GT-repeat in the bovine STAT5B encoding gene on BTA19. 1999 002;30(1):72

Michalik A, Del-Favero J, Mauger C, Lofgren A, Van Broeckhoven C Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. 1999 011;105(5):410-7

Mikitani K, Sugasaki T, Shimada T, Kobayashi M, Gustafsson JA The chitinase gene of the silkworm, Bombyx mori, contains a novel Tc-like transposable element. 2000 012 1;275(48):37725-32

Miyao A, Zhong HS, Monna L, Yano M, Yamamoto K, Havukkala I, Minobe Y, Sasaki T Characterization and genetic mapping of simple sequence repeats in the rice genome. 1996 008 31;3(4):233-8

Mohan S, Yathindra N Sequence effects on the propeller twist of base pairs in DNA helices. 1992 006;9(6):1195-211

Monson JM, Friedman J, McCarthy BJ DNA sequence analysis of a mouse pro alpha 1 (I) procollagen gene: evidence for a mouse B1 element within the gene. 1982 011;2(11):1362-71

Moran C Microsatellite repeats in pig (Sus domestica) and chicken (Gallus domesticus) genomes. 1993 007-008;84(4):274-80

Morral N, Nunes V, Casals T, Estivill X CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. 1991 007;10(3):692-8

Murakami T, Reiter LT, Lupski JR Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. 1997 005 15;42(1):161-4

Murphy KE, Stringer JR RecA independent recombination of poly[d(GT)-d(CA)] in pBR322. 1986 009 25;14(18):7325-40

Murray AW, Claus TE, Szostak JW Characterization of two telomeric DNA processing reactions in Saccharomyces cerevisiae. 1988 011;8(11):4642-50

Musso M, Nelson LD, Van Dyke MW Characterization of purine-motif triplex DNA-binding proteins in HeLa extracts. 1998 003 3;37(9):3086-95

Naciri Y, Vigouroux Y, Dallas J, Desmarais E, Delsert C, Bonhomme F Identification and inheritance of (GA/TC)n and (AC/GT)n repeats in the European flat oyster Ostrea edulis (L.). 1995 003;4(1):83-9

Nedospasov SA, Udalova IA, Kuprash DV, Turetskaya RL DNA sequence polymorphism at the human tumor necrosis factor (TNF) locus. Numerous TNF/lymphotoxin alleles tagged by two closely linked microsatellites in the upstream region of the lymphotoxin (TNF-beta) gene. 1991 008 1;147(3):1053-9

Niu T, Xu X, Cordell HJ, Rogus J, Zhou Y, Fang Z, Lindpaintner K Linkage analysis of candidate genes and gene-gene interactions in chinese hypertensive sib pairs. 1999 006;33(6):1332-7

Noonberg SB, Francois JC, Garestier T, Helene C Effect of competing self-structure on triplex formation with purine-rich oligodeoxynucleotides containing GA repeats. 1995 006 11;23(11):1956-63

Ohtake A, Takiguchi M, Shigeto Y, Amaya Y, Kawamoto S, Mori M Structural organization of the gene for rat liver-type arginase. 1988 002 15;263(5):2245-9

Oka S, Itoh N, Kawasaki T, Yamashina I Primary structure of rat liver mannan-binding protein deduced from its cDNA sequence. 1987 001;101(1):135-44

Oliva R, Dixon GH Chicken protamine genes are intronless. The complete genomic sequence and organization of the two loci. 1989 007 25;264(21):12472-81

Otsen M, Plas ME, Lenstra JA, Roos MH, Hoekstra R Microsatellite diversity of isolates of the parasitic nematode Haemonchus contortus. 2000 009;110(1):69-77

Palsson B, Palsson F, Perlin M, Gudbjartsson H, Stefansson K, Gulcher J Using quality measures to facilitate allele calling in high-throughput genotyping. 1999 010;9(10):1002-12

Pan J, McEver RP Characterization of the promoter for the human P-selectin gene. 1993 010 25;268(30):22600-8

Panaud O, Chen X, McCouch SR Frequency of microsatellite sequences in rice (Oryza sativa L.). 1995 012;38(6):1170-6

Pandolfo M A rapid method to isolate (GT)n repeats from yeast artificial chromosomes. 1992 003 11;20(5):1154

Park YM, Choi JY, Bae SH, Byun BH, Ahn BM, Kim BS, Shin DY Microsatellite instability and mutations of E2F-4 in hepatocellular carcinoma from Korea. 2000 005;17(2):102-111

Pearlman RE, Tsao N, Moens PB Synaptonemal complexes from DNase-treated rat pachytene chromosomes contain (GT)n and LINE/SINE sequences. 1992 004;130(4):865-72

Pestsova E, Ganal MW, Roder MS Isolation and mapping of microsatellite markers specific for the D genome of bread wheat. 2000 008;43(4):689-97

Petersen MB, Schinzel AA, Binkert F, Tranebjaerg L, Mikkelsen M, Collins FA, Economou EP, Antonarakis SE Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. 1991 001;48(1):65-71

Petersen MB, Slaugenhaupt SA, Lewis JG, Warren AC, Chakravarti A, Antonarakis SE A genetic linkage map of 27 markers on human chromosome 21. 1991 003;9(3):407-19

Petes TD, Greenwell PW, Dominska M Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae. 1997 006;146(2):491-8

Pfeiffer A, Olivieri AM, Morgante M Identification and characterization of microsatellites in Norway spruce (Picea abies K.). 1997 008;40(4):411-9

Playford MP, Butler RJ, Wang XC, Katso RM, Cooke IE, Ganesan TS The genomic structure of discoidin receptor tyrosine kinase. 1996 007;6(7):620-7

Prolla TA, Christie DM, Liskay RM Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of the bacterial mutL gene. 1994 001;14(1):407-15

Puers C, Hammond HA, Caskey CT, Lins AM, Sprecher CJ, Brinkmann B, Schumm JW Allelic ladder characterization of the short tandem repeat polymorphism located in the 5' flanking region to the human coagulation factor XIII A subunit gene. 1994 009 1;23(1):260-4

Refseth UH, Fangan BM, Jakobsen KS Hybridization capture of microsatellites directly from genomic DNA. 1997 008;18(9):1519-23

Rehemudula D, Nakayama T, Soma M, Takahashi Y, Uwabo J, Sato M, Izumi Y, Kanmatsuse K, Ozawa Y Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. 1999 003 19;84(5):605-10

Restagno G, Garnerone S, Gennaro C, Ferrone M, Carbonara A Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families. 1992 012;42(6):309-13

Riess O, Kammerbauer C, Roewer L, Steimle V, Andreas A, Albert E, Nagai T, Epplen JT Hypervariability of intronic simple (gt)n(ga)m repeats in HLA-DRB genes. 1990;32(2):110-6

Riess O, Thies U, Siedlaczck I, Potisek S, Graham R, Theilmann J, Grimm T, Epplen JT, Hayden MR Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16. 1994 001 15;19(2):298-302

Riley DE A family of homologous X chromosomal sequences with some members showing evidence of enhancer activity. 1990 012;9(10):763-70

Rivera R, Edwards KJ, Barker JH, Arnold GM, Ayad G, Hodgkin T, Karp A Isolation and characterization of polymorphic microsatellites in Cocos nucifera L. 1999 008;42(4):668-75

Roder MS, Plaschke J, Konig SU, Borner A, Sorrells ME, Tanksley SD, Ganal MW Abundance, variability and chromosomal location of microsatellites in wheat. 1995 002 6;246(3):327-33

Rongnoparut P, Yaicharoen S, Sirichotpakorn N, Rattanarithikul R, Lanzaro GC, Linthicum KJ Microsatellite polymorphism in Anopheles maculatus, a malaria vector in Thailand. 1996 012;55(6):589-94

Rosby O, Alestrom P, Berg K High-degree sequence conservation in LPA kringle IV-type 2 exons and introns. 1997 011;52(5):293-302

Rotman G, Vanagaite L, Collins FS, Shiloh Y Rapid identification of polymorphic CA-repeats in YAC clones. 1995 004;3(2):85-92

Royaux I, Lambert de Rouvroit C, D'Arcangelo G, Demirov D, Goffinet AM Genomic organization of the mouse reelin gene. 1997 012 1;46(2):240-50

Rugg EL, Rachet-Prehu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex. 1999 004;7(3):293-300

Ryan MC, Sieraski M, Sandell LJ The human type II procollagen gene: identification of an additional protein-coding domain and location of potential regulatory sequences in the promoter and first intron. 1990 009;8(1):41-8

Saal B, Wricke G Development of simple sequence repeat markers in rye (Secale cereale L.). 1999 010;42(5):964-72

Sahba S, Nechiporuk A, Figueroa KP, Nechiporuk T, Pulst SM Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. 1998 002 1;47(3):359-64

Saitoh H, Ueda S, Kurosaki K, Kiuchi M The different mobility of complementary strands depends on the proportion AC/GT. 1998 001 30;91(2):81-90

Sakai M, Morinaga T, Urano Y, Watanabe K, Wegmann TG, Tamaoki T The human alpha-fetoprotein gene. Sequence organization and the 5' flanking region. 1985 004 25;260(8):5055-60

Sakamoto A, Tanaka A, Watanabe H, Tano S Molecular cloning of Arabidopsis photolyase gene (PHR1) and characterization of its promoter region. 1998;9(5-6):335-40

Sakimura K, Kushiya E, Takahashi Y, Suzuki Y The structure and expression of neuron-specific enolase gene. 1987;60(1):103-13

Salvucci M, Lemoine A, Saffroy R, Azoulay D, Lepere B, Gaillard S, Bismuth H, Reynes M, Debuire B Microsatellite instability in European hepatocellular carcinoma. 1999 001 7;18(1):181-7

Sanchez de la Hoz MP, Davila JA, Loarce Y, Ferrer E Simple sequence repeat primers used in polymerase chain reaction amplifications to study genetic diversity in barley. 1996 002;39(1):112-7

Sargent RG, Merrihew RV, Nairn R, Adair G, Meuth M, Wilson JH The influence of a (GT)29 microsatellite sequence on homologous recombination in the hamster adenine phosphoribosyltransferase gene. 1996 002 15;24(4):746-53

Sarkar G, Paynton C, Sommer SS Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny. 1991 002 11;19(3):631-6

Sato M, Mori Y, Sakurada A, Fujimura S, Horii A A GT dinucleotide repeat polymorphism in intron 1 of the H-cadherin (CDH13) gene. 1998;43(4):285-6

Schuitevoerder K, Ansved T, Solders G, Borg K Proximal myotonic myopathy. Analysis of 3 Swedish cases. 1997 010;96(4):266-70

Schwaiger FW, Gomolka M, Geldermann H, Zischler H, Buitkamp J, Epplen JT, Ammer H Oligonucleotide fingerprinting to individualize ungulates. 1992;2(6):193-200

Schwaiger FW, Weyers E, Epplen C, Brun J, Ruff G, Crawford A, Epplen JT The paradox of MHC-DRB exon/intron evolution: alpha-helix and beta-sheet encoding regions diverge while hypervariable intronic simple repeats coevolve with beta-sheet codons. 1993 009;37(3):260-72

Shampay J, Schmitt M, Bassham S A novel minisatellite at a cloned hamster telomere. 1995 010;104(1):29-38

Sharkhov IV, Filippova MA, Strots OV, Borisevich IV, Bogachev SS, Baricheva EM, Shilov AG [Drosophila beta-heterochromatin: molecular organization and function. Characteristics of the DNA sequences from proximal beta-heterochromatin, associated with the nuclear envelope of Drosophila melanogaster]. 1993 003;29(3):393-402

Shelley CS, Baralle FE Deletion analysis of a unique 3' splice site indicates that alternating guanine and thymine residues represent an efficient splicing signal. 1987 005 11;15(9):3787-99

Shinmura K, Tani M, Isogaki J, Wang Y, Sugimura H, Yokota J RER phenotype and its associated mutations in familial gastric cancer. 1998 002;19(2):247-51

Sia EA, Butler CA, Dominska M, Greenwell P, Fox TD, Petes TD Analysis of microsatellite mutations in the mitochondrial DNA of Saccharomyces cerevisiae. 2000 001 4;97(1):250-5

Sillen A, Wadelius C, Sundvall M, Ahlsten G, Gustavson KH Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene. 1996;7(4):267-75

Sjottem E, Anderssen S, Johansen T The promoter activity of long terminal repeats of the HERV-H family of human retrovirus-like elements is critically dependent on Sp1 family proteins interacting with a GC/GT box located immediately 3' to the TATA box. 1996 001;70(1):188-98

Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. 1998 006 23;95(13):7737-41

Spitzner JR, Chung IK, Muller MT Eukaryotic topoisomerase II preferentially cleaves alternating purine-pyrimidine repeats. 1990 001 11;18(1):1-11

Stallings RL, Ford AF, Nelson D, Torney DC, Hildebrand CE, Moyzis RK Evolution and distribution of (GT)n repetitive sequences in mammalian genomes. 1991 007;10(3):807-15

Stallings RL, Torney DC, Hildebrand CE, Longmire JL, Deaven LL, Jett JH, Doggett NA, Moyzis RK Physical mapping of human chromosomes by repetitive sequence fingerprinting. 1990 008;87(16):6218-22

Stone RT, Pulido JC, Duyk GM, Kappes SM, Keele JW, Beattie CW A small-insert bovine genomic library highly enriched for microsatellite repeat sequences. 1995 010;6(10):714-24

Su TS, Lin LH Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus. 1990 011 15;265(32):19716-20

Sun GL, Salomon B, von Bothmer R Characterization of microsatellite loci from Elymus alaskanus and length polymorphism in several Elymus species (Triticeae: Poaceae). 1998 006;41(3):455-63

Takayanagi K, Mishima Y, Kominami R Difference in HMG1-induced DNA bending among microsatellites. 1997 006 30;4(3):241-7

Tam YC, Hassan M, Chopra A, Thirion JP Cloning, nucleotide sequence and molecular evolution of a rabbit processed metallothionein MT-2 pseudogene. 1988 011 15;156(3):1403-10

Tarr CL, Fleischer RC Primers for polymorphic GT microsatellites isolated from the Mariana crow, Corvus kubaryi. 1998 002;7(2):253-5

Tavianini MA, Hayes TE, Magazin MD, Minth CD, Dixon JE Isolation, characterization, and DNA sequence of the rat somatostatin gene. 1984 010 10;259(19):11798-803

Taylor GR, Haward S, Noble JS, Murday V Isolation and sequencing of CA/GT repeat microsatellites from chromosomal libraries without subcloning. 1992 001;200(1):125-9

Terauchi R A polymorphic microsatellite marker from the tropical tree Dryobalanops lanceolata (Dipterocarpaceae). 1994 010;69(5):567-76

Testolin R, Marrazzo T, Cipriani G, Quarta R, Verde I, Dettori MT, Pancaldi M, Sansavini S Microsatellite DNA in peach (Prunus persica L. Batsch) and its use in fingerprinting and testing the genetic origin of cultivars. 2000 006;43(3):512-20

Thibonnier M, Graves MK, Wagner MS, Chatelain N, Soubrier F, Corvol P, Willard HF, Jeunemaitre X Study of V(1)-vascular vasopressin receptor gene microsatellite polymorphisms in human essential hypertension. 2000 004;32(4):557-64

Thoren PA, Paxton RJ, Estoup A Unusually high frequency of (CT)n and (GT)n microsatellite loci in a yellowjacket wasp, Vespula rufa (L.) (Hymenoptera: Vespidae). 1995 008;4(3):141-8

Toda H, Takeuchi T, Hori N, Ito K, Sato K Inverted repeats in the TATA-less promoter of the rat catalase gene. 1997 006;121(6):1035-40

Tolstonog GV, Wang X, Shoeman R, Traub P Intermediate filaments reconstituted from vimentin, desmin, and glial fibrillary acidic protein selectively bind repetitive and mobile DNA sequences from a mixture of mouse genomic DNA fragments. 2000 011;19(11):647-77

Tombran-Tink J, Mazuruk K, Rodriguez IR, Chung D, Linker T, Englander E, Chader GJ Organization, evolutionary conservation, expression and unusual Alu density of the human gene for pigment epithelium-derived factor, a unique neurotrophic serpin. 1996 011 4;2:11

Tracy RB, Kowalczykowski SC In vitro selection of preferred DNA pairing sequences by the Escherichia coli RecA protein. 1996 008 1;10(15):1890-903

Truedsson L, Alper CA, Awdeh ZL, Johansen P, Sjoholm AG, Sturfelt G Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype/HLA-B-region and absence of disease association due to linked class II genes. 1993 011 15;151(10):5856-63

Uchida T, Wada C, Wang C, Egawa S, Ohtani H, Koshiba K Genomic instability of microsatellite repeats and mutations of H-, K-, and N-ras, and p53 genes in renal cell carcinoma. 1994 007 15;54(14):3682-5

Udalova IA, Nedospasov SA, Webb GC, Chaplin DD, Turetskaya RL Highly informative typing of the human TNF locus using six adjacent polymorphic markers. 1993 004;16(1):180-6

Umene K, Enquist LW A deletion analysis of hybrid phage carrying the US region of Herpes simplex virus type 1 (Patton). I. Isolation of deletion derivatives and identification of chi-likes sequences. 1981 004;13(3):251-68

Unfried I, Entler B, Prohaska R The organization of the gene (EPB72) encoding the human erythrocyte band 7 integral membrane protein (protein 7.2b). 1995 012 10;30(3):521-8

Velasco E, Valero C, Garcia E, de la Puente A, Cruces J, San Millan JL, del Castillo I, Coloma A, Moreno F, Hernandez-Chico C Isolation of microsatellites from the spinal muscular atrophy (SMA) candidate region on chromosome 5q and linkage analysis in Spanish SMA families. 1995;3(2):96-101

Vignier N, Moghadaszadeh B, Gary F, Beckmann J, Mayer U, Guicheney P Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7). 1999 007 5;260(2):357-64

Wan Q, Schuchman EH A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region. 1995 004 24;1270(2-3):207-10

Wang YJ, Oba SM, Yoshii S, Song JP, Wang Y, Kanamori M, Ota S, Tanaka M, Sugimura H Genomic structure of human alpha-pix, and variable deletions in a poly (T) tract in gastric cancer tissue. 2001 003 10;164(1):69-75

Ward SB, Morrison SL Sequence of the gamma 2b membrane 3' untranslated region: polya site determination and comparison to the gamma 2a membrane 3' untranslated region. 1992 002;29(2):279-85

Weber JL Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. 1990 008;7(4):524-30

Wei J, Ramchand CN, Hemmings GP Possible control of dopamine beta-hydroxylase via a codominant mechanism associated with the polymorphic (GT)n repeat at its gene locus in healthy individuals. 1997 001;99(1):52-5

Wei J, Xu HM, Ramchand CN, Hemmings GP Is the polymorphic microsatellite repeat of the dopamine beta-hydroxylase gene associated with biochemical variability of the catecholamine pathway in schizophrenia? 1997 004 1;41(7):762-7

Weinmayr G, Vautrin D, Solignac M Isolation and Characterization of Highly Polymorphic Microsatellites from the Polychaete Pectinaria koreni. 2000 001;2(1):92-99

Wells DJ Tdd-4, a DNA transposon of Dictyostelium that encodes proteins similar to LTR retroelement integrases. 1999 006 1;27(11):2408-15

White JA, Wilson JE Structure of the gene for type I hexokinase from rat. 1997 007 15;343(2):207-14

Wierdl M, Dominska M, Petes TD Microsatellite instability in yeast: dependence on the length of the microsatellite. 1997 007;146(3):769-79

Wierdl M, Greene CN, Datta A, Jinks-Robertson S, Petes TD Destabilization of simple repetitive DNA sequences by transcription in yeast. 1996 006;143(2):713-21

Wilke K, Jung M, Chen Y, Geldermann H Porcine (GT)n sequences: structure and association with dispersed and tandem repeats. 1994 005 1;21(1):63-70

Wirkner U, Voss H, Lichter P, Ansorge W, Pyerin W The human gene (CSNK2A1) coding for the casein kinase II subunit alpha is located on chromosome 20 and contains tandemly arranged Alu repeats. 1994 001 15;19(2):257-65

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. 1993 010;53(4):853-63

Wu KS, Tanksley SD Abundance, polymorphism and genetic mapping of microsatellites in rice. 1993 010;241(1-2):225-35

Xu Z, Dhar AK, Wyrzykowski J, Alcivar-Warren A Identification of abundant and informative microsatellites from shrimp (Penaeus monodon) genome. 1999 004;30(2):150-6

Yamada N, Yamaya M, Okinaga S, Nakayama K, Sekizawa K, Shibahara S, Sasaki H Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. 2000 001;66(1):187-95

Yuan X, Yamada K, Ishiyama-Shigemoto S, Koyama W, Nonaka K Identification of polymorphic loci in the promoter region of the serotonin 5-HT2C receptor gene and their association with obesity and type II diabetes. 2000 003;43(3):373-6

Zahn LM, Kwiatkowski DJ A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference. 1995 007 20;28(2):140-6

Zha H, Wilder RL, Goldmuntz EA, Cash JM, Crofford LJ, Mathern P, Remmers EF Linkage map of 10 polymorphic markers on rat chromosome 2. 1993;63(2):117-23

Zhou DX Regulatory mechanism of plant gene transcription by GT-elements and GT-factors. 1999 006;4(6):210-214

Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 1991 005;10(1):214-28

Zoraqi GK, Paradisi S, Falbo V, Taruscio D Genomic organization and assignment of VAMP2 to 17p12 by FISH. 2000;89(3-4):199-203

de Groen PC, Eggen BJ, Gispen WH, Schotman P, Schrama LH Cloning and promoter analysis of the human B-50/GAP-43 gene. 1995;6(2):109-19

van Belkum A, Ramesar J, Trommelen G, Uitterlinden AG Mini- and micro-satellites in the genome of rodent malaria parasites. 1992 009 1;118(1):81-6

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The Database was last updated at Apr 25, 2011