The human LMX1B gene: Transcription unit, promoter, and pathogenic mutations

Genomics

Volumn 84, Issue 3, 2004, Pages 565-576

  Dunston, Jennifer A ^a   Hamlington, Jeanette D ^a   Zaveri, Jayshree ^a   Sweeney, Elizabeth ^b   Sibbring, Julie ^c   Tran, Catherine ^a   Malbroux, Maria ^a   O'Neill, John P ^a   Mountford, Roger ^c   McIntosh, Iain ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^c LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

Author keywords

5 UTR; Conserved sequence; LMX1B; Mutation; Nail patella syndrome; Real time PCR; Transient transfection; Upstream open reading frame

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LMX1B; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; GENE ACTIVITY; GENE CONTROL; GENE DELETION; GENE MUTATION; GENE STRUCTURE; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; PROMOTER REGION; STRUCTURE ANALYSIS;

BASE SEQUENCE; BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENE COMPONENTS; HOMEODOMAIN PROTEINS; HUMANS; LUCIFERASES; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; PLASMIDS; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 3843076445     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2004.06.002     Document Type: Article

References (48)

1. I.B. Dawid, R. Toyama and M. Taira LIM domain proteins CR. Acad. Sci. III 318 1995 295 306
2. J. Curtiss and J.S. Heilig DeLIMiting development BioEssays 20 1998 58 69
3. J.D. Johnson, W. Zhang, A. Rudnick, W.J. Rutter and M.S. German Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity Mol. Cell. Biol. 17 1997 3488 3496
4. L.W. Jurata and G.N. Gill Functional analysis of the nuclear LIM domain interactor NL1 Mol. Cell. Biol. 17 1997 5688 5698
5. S. Banerjee-Basu and A.D. Baxevanis Molecular evolution of the homeodomain family of transcription factors Nucleic Acids Res. 29 2001 3258 3269
6. M.S. German, J. Wang, R.B. Chadwick and W.J. Rutter Synergistic activation of the insulin gene by a LIM-homeo domain protein and a basic helix-loop-helix protein: building a functional insulin minienhancer complex Genes Dev. 6 1992 2165 2176
7. S.D. Dreyer Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome Nature Genet. 19 1998 47 50
8. I. McIntosh Mutation analysis of LMX1B gene in nail-patella syndrome patients Am. J. Hum. Genet. 63 1998 1651 1658
9. D. Vollrath Loss of function mutations in the LIM homeodomain gene, LMX1B, in nail-patella syndrome Hum. Mol. Genet. 7 1998 1091 1098
10. M. Seri Identification of LMX1B gene point mutations in Italian patients affected with nail-patella syndrome Int. J. Mol. Med. 4 1999 285 290
11. H. Chen Limb and kidney defects in Lmx1b mice suggest an involvement of LMX1B in human nail-patella syndrome Nature Genet. 19 1998 51 55
12. H. Chen Multiple calvarial defects in lmx1b mutant mice Dev. Genet. 22 1998 314 320
13. C.L. Pressman, H. Chen and R.L. Johnson Lmx1b, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye Genesis 26 2000 15 25
14. M.P. Smidt, C.H. Asbreuk, J.J. Cox, H. Chen, R.L. Johnson and J.P. Burbach A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b Nature Neurosci. 3 2000 337 341
15. Y.Q. Ding Lmx1b is essential for the development of serotonergic neurons Nature Neurosci. 6 2003 933 938
16. R. Morello Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome Nature Genet. 27 2001 205 208
17. M.V. Clough, J.D. Hamlington and I. McIntosh Restricted distribution of loss-of-function mutations within the LMX1B genes of nail patella syndrome patients Hum. Mutat. 14 1999 459 465
18. E.M. Bongers, M.C. Gubler and N.V. Knoers Nail-patella syndrome. Overview on clinical and molecular findings Pediatr. Nephrol. 17 2002 703 712
19. J.D. Hamlington, C. Jones and I. McIntosh Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients Hum. Mutat. 18 2001 458
20. R.K. Beals and A.L. Eckhardt Hereditary onycho-osteodysplasia (nail-patella syndrome) J. Bone Joint Surg. 51A 1969 505 515
21. M.C. Browning, N. Weidner and W.B. Lorentz Jr. Renal histopathology of the nail-patella syndrome in a two-year-old boy Clin. Nephrol. 29 1988 210 213
22. P.R. Lichter, J.E. Richards, C.A. Downs, H.M. Stringham, M. Boehnke and F.A. Farley Cosegregation of open-angle glaucoma and the nail-patella syndrome Am. J. Ophthalmol. 124 1997 506 515
23. E. Sweeney, A. Fryer, R. Mountford, A. Green and I. McIntosh Nail patella syndrome: a review of the phenotype aided by developmental biology J. Med. Genet. 40 9 2003 153 162
24. H.C. Duba, M. Erdel, J. Loffler, J. Wirth, B. Utermann and G. Utermann Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier Eur. J. Hum. Genet. 6 1998 75 79
25. Silahtaroglu Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome Eur. J. Hum. Genet. 7 1999 68 76
26. W.M. Eyaid Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs Hum. Genet. 103 1998 525 526
27. J.C. Venter The sequence of the human genome Science 291 2001 1304 1351
28. E.S. Lander Initial sequencing and analysis of the human genome Nature 409 2001 860 921
29. M. Kozak An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs Nucleic Acids Res. 15 1987 8125 8184
30. M. Carey and S.T. Smale Transcriptional Regulation in Eukaryotes: Concepts, Strategies and Techniques 2000 Cold Spring Harbor Laboratory Press Cold Spring Harbor, NY 97 135
31. C.E. Haldin, S. Nijjar, K. Masse, M.W. Barnett and E.A. Jones Isolation and growth factor inducibility of the Xenopus laevis Lmx1b gene Int. J. Dev. Biol. 47 2003 253 262
32. R.C. Hardison Conserved noncoding sequences are reliable guides to regulatory elements Trends Genet. 16 2000 69 72
33. S. Levy, S. Hannenhalli and C. Workman Enrichment of regulatory signals in conserved non-coding genomic sequence Bioinformatics 17 2001 871 877
34. H.A. Meijer and A.A. Thomas Control of eukaryotic protein synthesis by upstream open reading frames in the 5′-untranslated region of an mRNA Biochem. J. 367 2002 1 11
35. A.V. Kochetov Eukaryotic mRNAs encoding abundant and scarce proteins are statistically dissimilar in many structural features FEBS Lett. 440 1998 351
36. M. Kozak Pushing the limits of the scanning mechanism for initiation of translation Gene 299 2002 1 34
37. B. Han, Z. Dong and J.T. Zhang Tight control of platelet-derived growth factor B/c-sis expression by interplay between the 5′-untranslated region sequence and the major upstream promoter J. Biol. Chem. 278 2003 46983 46993
38. B. Han, Z. Dong, Y. Liu, Q. Chen, K. Hashimoto and J.T. Zhang Regulation of constitutive expression of mouse PTEN by the 5′-untranslated region Oncogene 22 2003 5325 5337
39. J.T. den Dunnen and S.E. Antonarakis Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion Hum. Mutat. 15 2000 7 12
40. S.D. Dreyer LMX1B transactivation and expression in nail-patella syndrome Hum. Mol. Genet. 9 2000 1067 1074
41. P.A. Frischmeyer and H.C. Dietz Nonsense-mediated mRNA decay in health and disease Hum. Mol. Genet. 8 1999 1893 1900
42. M.J. Ruiz-Echevarria and S.W. Peltz The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames Cell 101 2000 741 751
43. A.F.A. Smit, P. Green, RepeatMasker at http://ftp.genome.washington.edu/ RM/RepeatMasker.html.
44. S. Schwartz PipMaker-a web server for aligning two genomic DNA sequences Genome Res. 10 2000 577 586 http://bio.cse.psu.edu/pipmaker
45. F. Larsen, G. Gundersen, R. Loez and H. Prydz CpG islands as gene markers in the human genome Genomics 13 1992 1095 1107 http://www.ebi.ac.uk/emboss/ cpgplot/#
46. E. Wingender TRANSFAC: an integrated system for gene expression regulation Nucleic Acids Res. 28 2000 316 319 www.genomatix.de
47. I. McIntosh Fine mapping of the nail-patella syndrome locus at 9q34 Am. J. Hum. Genet. 60 1997 133 142
48. K. Wilke, B. Duman and J. Horst Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR Hum. Mutat. 16 2000 431 436