Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in novel telomeric regulator

Human Molecular Genetics

Volumn 14, Issue 1, 2005, Pages 113-123

  Keegan, Catherine E ^a   Hutz, Janna E ^a   Else, Tobias ^a   Adamska, Maja ^a   Shah, Sonalee P ^a   Kent, Amy E ^a   Howes, John M ^a   Beamer, Wesley G ^c   Hammer, Gary D ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 8; TELOMERASE; TELOMERIC REPEAT BINDING FACTOR 1; WNT PROTEIN;

ADRENAL DISEASE; ANIMAL TISSUE; ANTERIOR POSTERIOR AXIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CAUDAL REGRESSION SYNDROME; CELL MATURATION; CONTROLLED STUDY; DEATH; DEVELOPMENTAL DISORDER; DYSPLASIA; ECTODERM; EMBRYO; EMBRYO PATTERN FORMATION; GENE EXPRESSION; GENE MUTATION; GENITAL MALFORMATION; GERM CELL; HYDRONEPHROSIS; INFERTILITY; MOUSE; MOUSE MUTANT; MOUSE STRAIN; NONHUMAN; ORTHOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; SPINE MALFORMATION; TELOMERE; TRANSGENE; URETER MALFORMATION; URINARY TRACT MALFORMATION;

ANIMALS; BODY PATTERNING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GONADAL DYSGENESIS; MICE; MICE, MUTANT STRAINS; MULTIPROTEIN COMPLEXES; MUTATION; RNA SPLICING; TELOMERE; TELOMERIC REPEAT BINDING PROTEIN 1;

ANIMALIA;

EID: 12344282699     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi011     Document Type: Article

References (51)

1. Beamer, W.G., Sweet, H.O., Bronson, R.T., Shire, J.G., Orth, D.N. and Davisson, M.T. (1994) Adrenocortical dysplasia: a mouse model system for adrenocortical insufficiency. J. Endocrinol., 141, 33-43.
2. Phelan, J.K. and McCabe, E.R. (2001) Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum. Mutat., 18, 472-487.
3. Keegan, C.E. and Hammer, G.D. (2002) Recent insights into organogenesis of the adrenal cortex. Trends Endociinol. Metab., 13, 200-208.
4. Pulichino, A.M., Vallette-Kasic, S., Couture, C., Gauthier, Y., Brue, T., David, M., Malpuech, G., Deal, C., Van Vliet, G., De Vroede, M. et al. (2003) Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev., 17, 711-716.
5. Clark, A.J., McLoughlin, L. and Grossman, A. (1993) Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet, 341, 461-462.
6. Tsigos, C., Arai, K., Hung, W. and Chrousos, G.P. (1993) Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J. Clin. Invest., 92, 2458-2461.
7. Kaufman, M. and Bard, J. (1999) The Anatomical Basis of Mouse Development. Academic Press, San Diego, CA.
8. Tam, P.P. and Tan, S.S. (1992) The somitogenetic potential of cells in the primitive streak and the tail bud of the organogenesis-stage mouse embryo. Development, 115, 703-715.
9. Tam, P.P. (1984) The histogenetic capacity of tissues in the caudal end of the embryonic axis of the mouse. J. Embryol. Exp. Morphol., 82, 253-266.
10. Tam, P.P. (1986) A study of the pattern of prospective somites in the presomitic mesoderm of mouse embryos. J. Embryol. Exp. Morphol., 92, 269-285.
11. Catala, M. (2002) Genetic control of caudal development. Clin. Genet., 61, 89-96.
12. Gofflot, F., Hall, M. and Morriss-Kay, G.M. (1997) Genetic patterning of the developing mouse tail at the time of posterior neuropore closure. Dev. Dyn., 210, 431-445.
13. Bohring, A., Lewin, S.O., Reynolds, J.F., Voiglander, T., Rittinger, O., Carey, J.C., Kopernik, M., Smith, R., Zackai, E.H., Leonard, N.J. et al. (1999) Polytopic anomalies with agenesis of the lower vertebral column. Am. J. Med. Genet., 87, 99-114.
14. Shum, A.S., Poon, L.L., Tang, W.W., Koide, T., Chan, B.W., Leung, Y.C., Shiroishi, T. and Copp, A.J. (1999) Retinoic acid induces down-regulation of Wnt-3a, apoptosis and diversion of tail bud cells to a neural fate in the mouse embryo. Mech. Dev., 84, 17-30.
15. Takada, S., Stark, K.L., Shea, M.J., Vassileva, G., McMahon, J.A. and McMahon, A.P. (1994) Wnt-3a regulates somite and tailbud formation in the mouse embryo. Genes Dev., 8, 174-189.
16. Greco, T.L., Takada, S., Newhouse, M.M., McMahon, J.A., McMahon, A.P. and Camper, S.A. (1996) Analysis of the vestigial tail mutation demonstrates that Wnt-3a gene dosage regulates mouse axial development. Genes Dev., 10, 313-324.
17. Pinson, K.I., Brennan, J., Monkley, S., Avery, B.J. and Skarnes, W.C. (2000) An LDL-receptor-related protein mediates Wnt signalling in mice. Nature, 407, 535-538.
18. Liu, D., Safari, A., O'Connor, M.S., Chan, D.W., Laegeler, A., Qin, J. and Songyang, Z. (2004) PTOP interacts with POT1 and regulates its localization to telomeres. Nat. Cell Biol., 6, 673-680.
19. Ye, J.Z., Hockemeyer, D., Krutchinsky, A.N., Loayza, D., Hooper, S.M., Chait, B.T. and de Lange, T. (2004) POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. Genes Dev., 18, 1649-1654.
20. Nakai, K. and Sakamoto, H. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene, 141, 171-177.
21. Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
22. Zhuang, Y. and Weiner, A.M. (1986) A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation. Cell, 46, 827-835.
23. Seraphin, B., Kretzner, L. and Rosbash, M. (1988) A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5′ cleavage site. EMBO J., 7, 2533-2538.
24. Siliciano, P.G. and Guthrie, C. (1988) 5′ splice site selection in yeast: genetic alterations in base-pairing with U1 reveal additional requirements. Genes Dev., 2, 1258-1267.
25. Chan, B.W., Chan, K.S., Koide, T., Yeung, S.M., Leung, M.B., Copp, A.J., Loeken, M.R., Shiroishi, T. and Shum, A.S. (2002) Maternal diabetes increases the risk of caudal regression caused by retinoic acid. Diabetes, 51, 2811-2816.
26. Ross, A.J., Ruiz-Perez, V., Wang, Y., Hagan, D.M., Scherer, S., Lynch, S.A., Lindsay, S., Custard, E., Belloni, E., Wilson, D.I. et al. (1998) A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat. Genet., 20, 358-361.
27. Ding, H., Schertzer, M., Wu, X., Gertsenstein, M., Selig, S., Kammori, M., Pourvali, R., Poon, S., Vulto, I., Chavez, E. et al. (2004) Regulation of murine telomere length by Rte1; an essential gene encoding a helicase-like protein. Cell, 117, 873-886.
28. Pani, L., Horal, M. and Locken, M.R. (2002) Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3 dependent development and tumorigenesis. Genes Dev., 16, 676-680.
29. Migliorini, D., Denchi, E.L., Danovi, D., Jochemsen, A., Capillo, M., Gobbi, A., Helin, K., Pelicci, P.G. and Marine, J.C. (2002) Mdm4 (Mdmx) regulates p53-induced growth arrest and neuronal cell death during early embryonic mouse development. Mol. Cell. Biol., 22 5527-5538.
30. Buchner, D.A., Trudeau, M. and Meisler, M.H. (2003) SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science, 301, 967-969.
31. Manning, E.L., Crossland, J., Dewey, M.J. and Van Zant, G. (2002) Influences of inbreeding and genetics on telomere length in mice. Mamm. Genome, 13, 234-238.
32. Martin-Rivera, L., Herrera, E., Albar, J.P. and Blasco, M.A. (1998) Expression of mouse telomerase catalytic subunit in embryos and adult tissues. Proc. Natl Acad. Sci. USA, 95, 10471-10476.
33. Yashima, K., Maitra, A., Rogers, B.B., Timmons, C.F., Rathi, A., Pinar, H., Wright, W.E., Shay, J.W. and Gazdar, A.F. (1998) Expression of the RNA component of telomerase during human development and differentiation. Cell Growth Differ., 9, 805-813.
34. Lee, H.W., Blasco, M.A., Gottlieb, G.J., Homer, J.W., II, Greider, C.W. and DePinho, R.A. (1998) Essential role of mouse telomerase in highly proliferative organs. Nature, 392, 569-574.
35. Herrera, E., Samper, E. and Blasco, M.A. (1999) Telomere shortening in mTR - /- embryos is associated with failure to close the neural tube. EMBO J., 18, 1172-1181.
36. Cheong, C., Hong, K.U. and Lee, H.W. (2003) Mouse models for telomere and telomerase biology. Exp. Mol. Med., 35, 141-153.
37. Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P.J. and Dokal, I. (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature, 413, 432-435.
38. Thompson, L.H. and Schild, D. (2002) Recombinational DNA repair and human disease. Mutat. Res., 509, 49-78.
39. Zantour, B., Messaoud, R., Zouali, M., Ladjimi, A., Braham, H., Hamza, H., Zebidi, A. and Sfar, M.H. (2003) Werner's syndrome and endocrine disorders. Ann. Endocrinol., 64, 205-209.
40. Artandi, S.E., Alson, S., Tietze, M.K., Sharpless, N.E., Ye, S., Greenberg, R.A., Castrillon, D.H., Homer, J.W., Weiler, S.R., Carrasco, R.D. et al. (2002) Constitutive telomerase expression promotes mammary carcinomas in aging mice. Proc. Natl Acad. Sci. USA 99,8191-8196.
41. Karlseder, J., Kachatrian, L., Takai, H., Mercer, K., Hingorani, S., Jacks, T. and de Lange, T. (2003) Targeted deletion reveals an essential function for the telomere length regulator Trf1. Mol. Cell. Biol., 23, 6533-6541.
42. Goytisolo, F.A. and Blasco, M.A. (2002) Many ways to telomere dysfunction: in vivo studies using mouse models. Oncogene, 21, 584-591.
43. Yashiro, K., Zhao, X., Uehara, M., Yamashita, K., Nishijima, M., Nishino, J., Saijoh, Y., Sakai, Y. and Hamada, H. (2004) Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb. Dev. Cell, 6, 411-422.
44. Pendino, F., Flexor, M., Delhommeau, F., Buet, D., Lanotte, M. and Segal-Bendirdjian, E. (2001) Retinoids down-regulate telomerase and telomere length in a pathway distinct from leukemia cell differentiation. Proc. Natl Acad. Sci. USA, 98, 6662-6667.
45. Bober, E., Franz, T., Arnold, H.H., Gruss, P. and Tremblay, P. (1994) Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells. Development, 120, 603-612.
46. Crossley, P.H. and Martin, G.R. (1995) The mouse Fgf8 gene encodes a family of polypeptides and is expressed in regions that direct outgrowth and patterning in the developing embryo. Development, 121, 439-451.
47. Echelard, Y., Epstein, D.J., St-Jacques, B., Shen, L., Mohler, J., McMahon, J.A. and McMahon, A.P. (1993) Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity. Cell, 75, 1417-1430.
48. Krebs, L.T., Iwai, N., Nonaka, S., Welsh, I.C., Lan, Y., Jiang, R., Saijoh, Y., O'Brien, T.P., Hamada, H. and Gridley, T. (2003) Notch signaling regulates left-right asymmetry determination by inducing Nodal expression. Genes Dev., 17, 1207-1212.
49. Roelink, H. and Nusse, R. (1991) Expression of two members of the Wnt family during mouse development - restricted temporal and spatial patterns in the developing neural tube. Genes Dev., 5, 381-388.
50. Kimmel, C.A. and Trammell, C. (1981) A rapid procedure for routine double staining of cartilage and bone in fetal and adult animals. Stain Technol., 56, 271-273.
51. Niwa, H., Yamamura, K. and Miyazaki, J. (1991) Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene, 108, 193-199.