A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Park, Hyung Doo ^a   Kim, Yoon Kyoung ^b   Park, Kyoung Un ^c,d   Kim, Jin Q ^d   Song, Young Han ^b   Song, Junghan ^c,d  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Hallym University   (South Korea)

^c Seoul National University Bundang Hospital   (South Korea)

^d Seoul National University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOKINASE; GALK1 PROTEIN, HUMAN;

ARTICLE; BINDING AFFINITY; CANCER CELL CULTURE; DNA PROTEIN COMPLEX; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROMOTER REGION; GALACTOSEMIA; GEL MOBILITY SHIFT ASSAY; GENETIC PREDISPOSITION; GENETICS; MUTATION; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; REPORTER GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ELECTROPHORETIC MOBILITY SHIFT ASSAY; GALACTOKINASE; GALACTOSEMIAS; GENES, REPORTER; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROMOTER REGIONS, GENETIC;

EID: 64549152388     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-29     Document Type: Article

References (25)

1. Segal S Berry GT Disorders of galactose metabolism The metabolic and molecular bases of inherited disease New York: McGraw-Hill Inc Sciver CR, Beaudet AL, Sly WS, Valle D 1995:967-1000.
2. Nishimura Y Tajima G Dwi Bahagia A Sakamoto A Ono H Sakura N Naito K Hamakawa M Yoshii C Kubota M, et al. Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging J Inherit Metab Dis 2004, 27(1):11-18. 10.1023/B:BOLI.0000016621.29854.d6 14970742
3. Stambolian D Ai Y Sidjanin D Nesburn K Sathe G Rosenberg M Bergsma DJ Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts Nat Genet 1995, 10(3):307-312. 10.1038/ ng0795-307 7670469
4. Asada M Okano Y Imamura T Suyama I Hase Y Isshiki G Molecular characterization of galactokinase deficiency in Japanese patients J Hum Genet 1999, 44(6):377-382. 10.1007/s100380050182 10570908
5. Kalaydjieva L Perez-Lezaun A Angelicheva D Onengut S Dye D Bosshard NU Jordanova A Savov A Yanakiev P Kremensky I, et al. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies) Am J Hum Genet 1999, 65(5):1299-1307. 1288282 10521295 10.1086/ 302611
6. Kolosha V Anoia E de Cespedes C Gitzelmann R Shih L Casco T Saborio M Trejos R Buist N Tedesco T, et al. Novel mutations in 13 probands with galactokinase deficiency Hum Mutat 2000, 15(5):447-453. 10.1002/ (SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M 10790206
7. Hunter M Angelicheva D Levy HL Pueschel SM Kalaydjieva L Novel mutations in the GALK1 gene in patients with galactokinase deficiency Hum Mutat 2001M 17(1):77-78. 10.1002/ 1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H 11139256
8. Sangiuolo F Magnani M Stambolian D Novelli G Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency Hum Mutat 2004, 23(4):396. 10.1002/humu.9223 15024738
9. Park H Bang Y Park K Kim J Jeong B Kim Y Song Y Song J Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency Mol Genet Metab 2007, 91(3):234-238. 10.1016/ j.ymgme.2007.04.005 17517531
10. Donnell G Ng W Hodgman J Bergren W Galactose metabolism in the newborn infant Pediatrics 1967, 39(6):829-837. 6026549
11. Shin Y Galactose metabolites and disorders of galactose metabolism Techniques in diagnostic human biochemical genetics New York: Wiley-Liss, Inc Hommes F 1991:267-283.
12. Bergsma DJ Ai Y Skach WR Nesburn K Anoia E Van Horn S Stambolian D Fine structure of the human galactokinase GALK1 gene Genome Res 1996, 6(10):980-985. 10.1101/gr.6.10.980 8908517
13. Yang F Agulian T Sudati JE Rhoads DB Levitsky LL Developmental regulation of galactokinase in suckling mouse liver by the Egr-1 transcription factor Pediatr Res 2004, 55(5):822-829. 10.1203/ 01.PDR.0000120682.05408.79 14973178
14. Park H Park K Kim J Shin C Yang S Lee D Song Y Song J The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients Genet Med 2005, 7(9):646-649. 16301867
15. Roder K Schweizer M Running-buffer composition influences DNA-protein and protein-protein complexes detected by electrophoretic mobility-shift assay (EMSA) Biotechnol Appl Biochem 2001, 33(Pt 3):209-214. 10.1042/ BA20010007 11389675
16. Johnson DR Levanat S Bale AE Direct molecular analysis of archival tumor tissue for loss of heterozygosity Biotechniques 1995, 19(2):190-192. 8527133
17. Cartharius K Frech K Grote K Klocke B Haltmeier M Klingenhoff A Frisch M Bayerlein M Werner T MatInspector and beyond: Promoter analysis based on transcription factor binding sites Bioinformatics 2005, 21(13):2933-2942. 10.1093/bioinformatics/bti473 15860560
18. Gunde T Tanner S Auf der Maur A Petrascheck M Barberis A Quenching accumulation of toxic galactose-1-phosphate as a system to select disruption of protein-protein interactions in vivo Biotechniques 2004, 37(5):844-852. 15560141
19. Suzuki M West C Beutler E Large-scale molecular screening for galactosemia alleles in a pan-ethnic population Hum Genet 2001, 109(2):210-215. 10.1007/s004390100552 11511927
20. Gutman A Gilthorpe J Rigby PW Multiple positive and negative regulatory elements in the promoter of the mouse homeobox gene Hoxb-4 Mol Cell Biol 1994, 14(12):8143-8154. 359353 7969151
21. Elsas LJ Lai K Saunders CJ Langley SD Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia Mol Genet Metab 2001, 72(4):297-305. 10.1006/ mgme.2001.3157 11286503
22. Langley SD Lai K Dembure PP Hjelm LN Elsas LJ Molecular basis for Duarte and Los Angeles variant galactosemia Am J Hum Genet 1997, 60(2):366-372. 1712399 9012409
23. Donnell G Bergren W Perry G Koch R Galactose-1-phosphate in galactosemia Pediatrics 1963, 31:802-810. 14028648
24. Beutler E Baluda M Halasz A Biochemical properties of human red cell galactose-1-phosphate uridyl transferase (UDP glucose: alpha-D-galactose-1-phosphate uridyltransferase E.C.2.7.7.12) from normal and mutant subjects J Lab Clin Med 1966, 67(6):947-954. 5916143
25. Forges T Monnier-Barbarino P Leheup B Jouvet P Pathophysiology of impaired ovarian function in galactosaemia Hum Reprod Update 2006, 12(5):573-584. 10.1093/humupd/dml031 16835432