Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice

Genomics

Volumn 85, Issue 3, 2005, Pages 330-337

  White, Robert A ^a,b   McNulty, Steven G ^a   Nsumu, Ndona N ^a   Boydston, Leigh A ^a   Brewer, Brandon P ^a   Shimizu, Koji ^c  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^c NARUTO UNIVERSITY OF EDUCATION   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; IRON; RNA; SCAFFOLD PROTEIN; TETRATRICOPEPTIDE REPEAT DOMAIN 7 PROTEIN; TETRATRICOPEPTIDE REPEAT PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ANEMIA; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HOMEOSTASIS; INTRON; IRON TRANSPORT; MOLECULAR CLONING; MOUSE; MOUSE MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RETROPOSON; RNA TRANSCRIPTION; TETRATRICOPEPTIDE REPEAT;

EID: 13844280263     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2004.11.008     Document Type: Article

References (38)

1. M.D. Fleming Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene Nat. Genet. 16 1997 383 386
2. C.D. Vulpe Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse Nat. Genet. 21 1999 195 199
3. J.N. Feder A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat. Genet. 13 1996 399 408
4. A. Donovan Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter Nature 403 2000 776 781
5. J.A. Edwards, and J.E. Hoke Red cell iron uptake in hereditary microcytic anemia Blood 46 1975 381 388
6. J.A. Edwards, and J.E. Hoke Defect of intestinal mucosal iron uptake in mice with hereditary microcytic anemia Proc. Soc. Exp. Biol. Med. 141 1972 81 84
7. J.E. Peppriell, J.A. Edwards, and R.M. Bannerman The kinetics of iron uptake by isolated intestinal cells from normal mice and mice with sex-linked anemia Blood 60 1982 635 641
8. J.A. Edwards, and R.M. Bannerman Hereditary defect of intestinal iron transport in mice with sex linked anemia J. Clin. Invest. 49 1970 1869 1871
9. G.J. Anderson Mapping the gene for sex-linked anemia: an inherited defect of intestinal iron absorption in the mouse Genomics 48 1998 34 39
10. F. Canonne-Hergeux, S. Gruenheid, P. Ponka, and P. Gros Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron Blood 93 1999 4406 4417
11. H. Zoller Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload Gastroenterology 120 2001 1412 1419
12. A.T. McKie An iron-regulated ferric reductase associated with the absorption of dietary iron Science 291 2001 1755 1759
13. W.G. Beamer, S.C. Pelsue, L.D. Shultz, J.P. Sundberg, and J.E. Barker The flaky skin (fsn) mutation in mice: map location and description of the anemia Blood 86 1995 3220 3226
14. K. Shimizu, H. Keino, N. Ogasawara, and K. Esaki Hereditary erythroblastic anaemia in the laboratory mouse Lab. Anim. 17 1983 198 202
15. R.A. White Chromosomal localization, hematologic characterization, and iron metabolism of the hereditary erythroblastic anemia (hea) mutant mouse Blood 104 2004 1511 1518
16. C. Baust, G.J. Baillie, and D.L. Mager Insertional polymorphisms of ETn retrotransposons include a disruption of the wiz gene in C57BL/6J mice Mamm. Genome 13 2002 423 428
17. P. Brulet, M. Kaghad, Y.-S. Xu, O. Croissant, and F. Jacob Early differential tissue expression of transposon-like repetitive DNA sequences of the mouse Proc. Natl. Acad. Sci. USA 80 1983 5641 5645
18. D.L. Mager, and J.D. Freeman Novel mouse type D endogenous proviruses and ETn elements share long terminal repeat and internal sequences J. Virol. 74 2000 7221 7229
19. M. Adachi, R.W. Fukunaga, and S. Nagata Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen for lpr mice Proc. Natl. Acad. Sci. USA 90 1993 1756 1760
20. B.C. Moon, and J.M. Friedman The molecular basis of the obese mutation in ob2J mice Genomics 42 1997 152 156
21. V. Schnulle The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles Mamm. Genome 8 1997 718 725
22. H. Thien, and U. Ruther The mouse mutation Pdn (polydactyly Nagoya) is caused by the integration of a retrotransposon into the Gli3 gene Mamm. Genome 10 1999 205 209
23. L.L. Peters Downeast anemia (dea), a new mouse model of severe nonspherocytic hemolytic anemia caused by hexokinase (HK1) deficiency Blood Cells Mol. Dis. 27 2001 850 860
24. Q. Zhang The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking Hum. Mol. Genet. 11 2002 697 706
25. W.L. Leong ETn insertion in the mouse Adcy1 gene: transcriptional and phylogenetic analyses Mamm. Genome 11 2000 97 103
26. M. Goebl, and M. Yanagida The TPR snap helix: a novel protein repeat motif from mitosis to transcription Trends Biochem. Sci. 16 1991 173 177
27. J.R. Lamb, S. Tugendreich, and P. Hieter Tetratrico peptide repeat interactions: to TPR or not to TPR? Trends Biochem. Sci. 20 1995 257 259
28. A.K. Das, P.T.W. Cohen, and D. Barford The structure of the tetratricopeptide repeats of protein phosphatase 5: implications for TPR-mediated protein-protein interactions EMBO J. 17 1998 1192 1199
29. G.L. Blatch, and M. Lassle The tetratricopeptide repeat: a structural motif mediating protein-protein interactions Bioessays 21 1999 932 939
30. M.J. Pallen, M.S. Francis, and K. Futterer Tetratricopeptide-like repeats in type-III-secretion chaperones and regulators FEMS Microbiol. Lett. 223 2003 53 60
31. M. Wareing, C.J. Ferguson, R. Green, D. Riccardi, and C.P. Smith In vivo characterization of renal iron transport in the anaesthetized rat J. Physiol. 524 2000 581 586
32. C.J. Ferguson Cellular localization of divalent metal transporter DMT1 in rat kidney Am. J. Physiol. Renal. Physiol. 280 2001 F803 F814
33. J.B. Porter Deferoxamine pharmacokinetics Semin. Hematol. 39 2001 63 68
34. M. Franchini Safety and efficacy of subcutaneous bolus injection of deferoxamine in adult patients with iron overload Blood 95 2000 2776 2779
35. O. Kildahl-Anderson, I.M. Dahl, K. Thorstensen, and E. Sagen Iron deficiency anemia in a patient with excessive urinary iron loss Eur. J. Haematol. 64 2000 204 205
36. W. Dietrich A genetic map of the mouse suitable for typing intraspecific crosses Genetics 131 1992 423 447
37. T.-A. Kim Genomic organization, chromosomal localization, and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors Gene 255 2000 105 116
38. R.A. White, C.S. Birkenmeier, S.E. Lux, and J.E. Barker Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythroid ankyrin Proc. Natl. Acad. Sci. USA 83 1989 3117 3121