Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate in mice

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 73, Issue 2, 2005, Pages 103-113

  Juriloff, Diana M ^a   Harris, Muriel J ^a   Dewell, Sarah L ^a   Brown, Carolyn J ^a   Mager, Dixie L ^a,b   Gagnier, Liane ^b   Mah, Diana G ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BRITISH COLUMBIA CANCER AGENCY   (Canada)

Author keywords

Cleft lip; Cleft palate; Digenic; Haplotype; IAP; Mouse; Multifactorial; Mutation; Retrotransposon; Wnt3, Wnt9b

Indexed keywords

WNT PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CELL DIVISION; CHROMOSOME 11; CHROMOSOME 17Q; CLEFT LIP; CLEFT PALATE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HAPLOTYPE; MOUSE; MULTIFACTORIAL GENETIC DISORDER; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL; RETROPOSON; SIGNAL TRANSDUCTION; TESTIS; WNT 3 GENE; WNT 9B GENE;

ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, MAMMALIAN; CLEFT LIP; CLEFT PALATE; CROSSES, GENETIC; GENE EXPRESSION REGULATION, DEVELOPMENTAL; LINKAGE (GENETICS); MAXILLOFACIAL DEVELOPMENT; MICE; MICE, MUTANT STRAINS; MUTATION; QUANTITATIVE TRAIT LOCI; TRANSCRIPTION, GENETIC;

EID: 14244258927     PISSN: 15420752     EISSN: None     Source Type: Journal    
DOI: 10.1002/bdra.20106     Document Type: Article

References (59)

1. Baust C, Baillie GJ, Mager DL. 2002. Insertional polymorphisms of ETn retrotransposons include a disruption of the wiz gene in C57BL/6J mice. Mamm Genome 13:423-428.
2. Benavides GR, Hubby B, Grosse WM, et al. 1995. Construction and use of a multi-competitor gene for quantitative RT-PCR using existing primer sets. J Immunol Methods 181:145-156.
3. Burge C, Karlin S. 1997. Prediction of complete gene structures in human genomic DNA. J Mol Biol 268:78-94.
4. Chenevix-Trench G, Jones K, Green AC, et al. 1992. Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci [see comments]. Am J Hum Genet 51:1377-1385.
5. Davidson JG, Fraser FC, Schlager G. 1969. A maternal effect on the frequency of spontaneous cleft lip in the A-J mouse. Teratology 2:371-376.
6. Dolinski K, Balakrishnan R, Christie KR, et al. 2003. Saccharomyces Genome Database. Available at: http://www.yeastgenome.org.
7. Druker R, Whitelaw E. 2004. Retrotransposon-derived elements in the mammalian genome: a potential source of disease. J Inherit Metab Dis 27:319-330.
8. Garcia-Castro MI, Marcelle C, Bronner-Fraser M. 2002. Ectodermal Wnt function as a neural crest inducer. Science 297:848-851.
9. Gong SG. 2001. Phenotypic and molecular analyses of A/WySn mice. Cleft Palate Craniofac J 38:486-491.
10. Harada A, Oguchi K, Okabe S, et al. 1994. Altered microtubule organization in small-calibre axons of mice lacking tau protein. Nature 369:488-491.
11. Harris MJ, Juriloff DM, Biddle FG. 1984. Cortisone cure of the lidgap defect in fetal mice: a dose-response and time-response study. Teratology 29:287-295.
12. Heinrich N, Meyer MR, Furkert J, et al. 1998. Corticotropin-releasing factor (CRF) agonists stimulate testosterone production in mouse Leydig cells through CRF receptor-1. Endocrinology 139:651-658.
13. Hodivala-Dilke KM, McHugh KP, Tsakiris DA, et al. 1999. Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. J Clin Invest 103:229-238.
14. Ishihara H, Tanaka I, Wan H, et al. 2004. Retrotransposition of limited deletion type of intracisternal A-particle elements in the myeloid leukemia cells of C3H/He mice. J Radiat Res (Tokyo) 45:25-32.
15. Jugessur A, Wilcox AJ, Lie RT, et al. 2003. Exploring the effects of methyl-enetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 157:1083-1091.
16. Juriloff DM, Trasler DG. 1976. Test of the hypothesis that embryonic face shape is a causal factor in genetic predisposition to cleft lip in mice. Teratology 14:35-41.
17. Juriloff DM. 1982. Differences in frequency of cleft lip among the A strains of mice. Teratology 25:361-368.
18. Juriloff DM. 1987. Maternal treatment with cortisone accelerates eyelid closure and other developmental fusion processes in fetal mice. Development 100:611-618.
19. Juriloff DM, Harris MJ. 1989. A scanning electron microscope study of fetal eyelid closure accelerated by cortisone in SWV/Bc mice. Teratology 40:59-66.
20. Juriloff DM, Harris MJ, Tom C, et al. 1991. Normal mouse strains differ in the site of initiation of closure of the cranial neural tube. Teratology 44:225-233.
21. M1, in mice. J Exp Zool 265:144-152.
22. Juriloff DM, Mah DG. 1995. The major locus for multifactorial nonsyndromic cleft lip maps to mouse chromosome 11. Mamm Genome 6:63-69.
23. Juriloff DM, Harris MJ, Brown CJ. 2001. Unravelling the complex genetics of cleft lip in the mouse model. Mamm Genome 12:426-435.
24. Juriloff DM, Harris MJ, Dewell SL. 2004. A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci. Birth Defects Res Part A Clin Mol Teratol 70:509-518.
25. Kalter H. 1979. The history of the A family of inbred mice and the biology of its congenital malformations. Teratology 20:213-232.
26. Katoh M. 2002. WNT and FGF gene clusters [Review]. Int J Oncol 21:1269-1273.
27. Kent WJ. 2002. BLAT - the BLAST-like alignment tool. Genome Res 12:656-664.
28. Kurihara Y, Kurihara H, Suzuki H, et al. 1994. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 368:703-710.
29. Lee HY, Kleber M, Hari L, et al. 2004. Instructive role of Wnt/beta-catenin in sensory fate specification in neural crest stem cells. Science 303:1020-1023.
30. Liu P, Wakamiya M, Shea MJ, et al. 1999. Requirement for Wnt3 in vertebrate axis formation. Nat Genet 22:361-365.
31. MGD. 2004. Mouse Genome Database (MGD). Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, Maine. Available at: http://www.informatics.jax. org.
32. iapy) is correlated with methylation state and is influenced by parental lineage. Genes Dev 8:1463-1472.
33. Moreno LM, Arcos-Burgos M, Marazita ML, et al. 2004. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am J Med Genet 125A:135-144.
34. Morse HC. 1978. Introduction. In: Morse, HC editor. Origins of inbred mice. New York: Academic Press. p. 3-21.
35. Mouse Genome Sequencing Consortium. 2002. Initial sequencing and comparative analysis of the mouse genome. Nature 420:520-562.
36. NCBI. 2004. National Center for Biotechnology Information (NCBI): GenBank. Available at: http://www.ncbi.nlm.nih.gov/Genbank.
37. Niemann S, Zhao C, Pascu F, et al. 2004. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 74:558-563.
38. Nigumann P, Redik K, Matlik K, Speek M. 2002. Many human genes are transcribed from the antisense promoter of L1 retrotransposon. Genomics 79:628-634.
39. Parr BA, Shea MJ, Vassileva G, McMahon AP. 1993. Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds. Development 119:247-261.
40. Peanchitlertkajorn S, Cooper ME, Liu YE, et al. 2003. Chromosome 17: gene mapping studies of cleft lip with or without cleft palate in Chinese families. Cleft Palate Craniofac J 40:71-79.
41. Prescott NJ, Winter RM, Malcolm S. 2002. Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate. J Med Genet 39:368-369.
42. Qian J, Jiang Z, Li M, et al. 2003. Mouse Wnt9b transforming activity, tissue-specific expression, and evolution. Genomics 81:34-46.
43. Fu allele occurs after maternal and paternal transmission. Proc Natl Acad Sci USA 100:2538-2543.
44. Roelink H, 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.
45. Silver LM. 1995. Mouse genetics. Concepts and applications. New York: Oxford University Press. p 147.
46. Smith GW, Aubry JM, Dellu F, et al. 1998. Corticotropin releasing factor 1-deficient mice display decreased anxiety, impaired stress response, and aberrant neuroendocrine development. Neuron 20:1093-1102.
47. Strachan T, Read AP. 1999. Human Molecular Genetics. 2nd ed. New York: Wiley-Liss. pp. 127-128, 378.
48. Timpl P, Spanagel R, Sillaber I, et al. 1998. Impaired stress response and reduced anxiety in mice lacking a functional corticotropin-releasing hormone receptor 1. Nat Genet 19:162-166.
49. Trasler DG. 1968. Pathogenesis of cleft lip and its relation to embryonic face shape in A-J and C57BL mice. Teratology 1:33-49.
50. UCSC. 2003. University of California, Santa Cruz (UCSC) Genome Browser. Mouse, October 2003 Freeze. Available at: http://genome.ucsc.edu.
51. van de Lagemaat LN, Landry JR, Mager DL, et al. 2003. Transposable elements in mammals promote regulatory variation and diversification of genes with specialized functions. Trends Genet 19:530-536.
52. Vasicek TJ, Zeng L, Guan X-J, et al. 1997. Two dominant mutations in the mouse Fused gene are the result of transposon insertions. Genetics 147:777-786.
53. Wade CM, Kulbokas EJ III, Kirby AW, et al. 2002. The mosaic structure of variation in the laboratory mouse genome. Nature 420:574-578.
54. Wang KY, Juriloff DM, Diewert VM. 1995. Deficient and delayed primary palatal fusion and mesenchymal bridge formation in cleft lip-liable strains of mice. J Craniofac Genet Dev Biol 15:99-116.
55. Wang J, Li S, Zhang Y, et al. 2003. Vertebrate gene predictions and the problem of large genes. Nat Rev Genet 4:741-749.
56. Waterland RA, Jirtle RL. 2003. Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol 23:5293-5300.
57. Whitelaw E, Martin DI. 2001. Retrotransposons as epigenetic mediators of phenotypic variation in mammals. Nat Genet 27:361-365.
58. Wiltshire T, Pletcher MT, Batalov S, et al. 2003. Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse. Proc Natl Acad Sci USA 100:3380-3385.
59. Witmer PD, Doheny KF, Adams MK, et al. 2003. The development of a highly informative mouse simple sequence length polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. Genome Res 13:485-491.