The hemimelic extra toes mouse mutant: Historical perspective on unraveling mechanisms of dysmorphogenesis

Birth Defects Research Part C - Embryo Today: Reviews

Volumn 90, Issue 2, 2010, Pages 155-162

  Knudsen, Thomas B ^a   Kochhar, Devendra M ^b  

^a U S ENVIRONMENTAL PROTECTION AGENCY   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Limb development; Mouse mutant; Teratology

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ALLELE; APOPTOSIS; CELL ACTIVITY; CHROMOSOME 5; CRYOPRESERVATION; DISEASE COURSE; DISEASE SEVERITY; DNA LIBRARY; DNA SEQUENCE; ECTODERM; EXON; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC TRANSCRIPTION; HEMIMELIA; HUMAN; INCIDENCE; LIMB BUD; LIMB DEVELOPMENT; MALE INFERTILITY; MESENCHYME; MITOSIS; MOLECULAR CLONING; MORPHOGENESIS; MOUSE MUTANT; NONHUMAN; NORTHERN BLOTTING; OPEN READING FRAME; PHENOTYPE; PHOCOMELIA; POLYDACTYLY; PRIORITY JOURNAL; PROGENY; PROMOTER REGION; RADIUS; REVIEW; SIGNAL TRANSDUCTION; SKELETON; SYNDACTYLY; TALUS; TERATOLOGY; TIBIA; WILD TYPE;

ANIMALS; CHROMOSOME MAPPING; ECTROMELIA; EXTREMITIES; FEMALE; FETAL DISEASES; HUMANS; INTRONS; LIMB BUDS; MESODERM; MICE; MUTATION; PHENOTYPE; POLYDACTYLY; PREGNANCY; TOES;

ERINACEIDAE; MURINAE; MUS;

EID: 77953509412     PISSN: 1542975X     EISSN: 15429768     Source Type: Journal    
DOI: 10.1002/bdrc.20181     Document Type: Review

References (46)

1. Amano T, Sagai T, Tanabe H, Mizushina Y, Nakazawa H and Shiroishi T (2009) Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription. Developmental Cell 16:47-57.
2. Bastida MF, Sheth R, Ros MA. 2009. A BMP-Shh negative-feedback loop restricts Shh expression during limb development. Development 136:3779-3789.
3. Bénazet J-D, Bischofberger M, Tiecke E, et al. 2009. A self-regulatory system of interlinked signaling feedback loops controls mouse limb patterning. Science 323:1050-1053.
4. Blanc I, Bach A, Robert B. 2002. Unusual pattern of Sonic hedgehog expression in the polydactylous mouse mutant Hemimelic extra-toes. Int J Dev Biol 46:969-974.
5. Boot MJ, Westerberg CH, Sanz-Ezquerro J, et al. 2008. In vitro whole-organ imaging: 4D quantification of growing mouse limb buds. Nat Methods 5:609-612.
6. Büscher D, Rüther U. 1998. Expression profile of Gli family members and Shh in normal and mutant mouse limb development. Dev Dyn 211:88-96.
7. Chang DT, López A, von Kessler DP, et al. 1994. Products, genetic linkage and limb patterning activity of a murine hedgehog gene. Development 120:3339-3353.
8. Clark RM, Marker PC, Kingsley DM. 2000. A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. Genomics 67:19-27.
9. Cook SA, Davisson MT. 2003. Two mutations in the Lmbr1 and Hx region of mouse chromosome 5. Mouse Genome Informatics (MGI), The Jackson Laboratory. Available at: http://mousemutant.jax.org/articles/mmr-mutant-hxl-and-hxl2.html.
10. Dagg C. 1960. Sensitive stages for the production of developmental abnormalities in mice with 5-fluorouracil. Am J Anat 106:89-96.
11. Dickie MM. 1968. Hemimelic extra toes, Hx. Mouse News Lett 38:24.
12. Dillon R, Othmer HG. 1999. A mathematical model for outgrowth and spatial patterning of the vertebrate limb bud. J Theor Biol 197:295-330.
13. Fisher ME, Clelland AK, Bain A, et al. 2008. Integrating technologies for comparing 3D gene expression domains in the developing chick limb. Dev Biol 317:13-23.
14. Freund E (1936) Congenital defects of the femur, fibula and tibia. Arch Surg 33:349-391.
15. Gilbert SF. 2006. Development of the tetrapod limb. In: Developmental biology, 8th ed. (Gilbert SF, ed.) Sunderland, MA: Sinauer Associates, Inc. pp 505-527.
16. Gilbert SF, Epel D. 2009. Evolution through developmental regulatory genes. In: Ecological developmental biology. Integrating epigenetics, medicine and evolution. Sunderland, MA: Sinauer Associates, Inc. pp 323-367.
17. Heus HC, Hing A, van Baren MJ, et al. 1999. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics 57:342-351.
18. Heus HC, Luijsterburg AJ, van Baren MJ, et al. 2001. Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction. Mamm Genome 12:77-79.
19. Heutink P, Zguricas J, van Oosterhout L, et al. 1994. The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nat Genet 6:287-292.
20. Horikoshi T, Endo N, Shibata M, et al. 2003. Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. J Bone Miner Metab 21:1-4.
21. x). PhD Thesis, Thomas Jefferson University, Philadelphia, PA.
22. Knudsen TB, Daston GP. 2010. Virtual tissues and developmental systems biology. In: Daston GP, Knudsen TB, editors. Comprehensive toxicology: developmental toxicology. New York: Elsevier (in press).
23. Knudsen TB, Elmer WA. 1987. Evidence for negative control of growth by adenosine in the mammalian embryo: induction of Hmx/1 mutant limb outgrowth by adenosine deaminase. Differentiation 33:270-279.
24. Knudsen TB, Elmer WA, Kochhar DM. 1985. Elevated rate of DNA synthesis and its correlation to cAMP-phosphodiesterase activity during induction of polydactyly in mouse embryos heterozygous for Hemimelia-extra toe (Hmx). Teratology 31:155-166.
25. Knudsen TB, Kochhar DM. 1981. The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation Hemimelia-extra toe (Hmx). J Embryol ExpMorphol 65 (Suppl):289-307.
26. Lettice LA, Heaney SJ, Purdie LA, et al. 2003. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 12:1725-1735.
27. Mackem S, Lewandoski M. 2009. Limb development takes a measured step toward systems analysis. Sci Signal 2:pe33.
28. Marigo V, Roberts DJ, Lee SM, et al. 1995. Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. Genomics 28:44-51.
29. Martin GR. 1998. The roles of FGFs in the early development of vertebrate limbs. Genes Dev 12:3156-3161.
30. Martin GR, Richman M, Reinsch S, et al. 1990. Mapping of the two mouse engrailed-like genes: close linkage of En-1 to dominant hemimelia (Dh) on chromosome 1 and of En-2 to hemimelic extra-toes (Hx) on chromosome 5. Genomics 6:302-308.
31. Masuya H, Sagai T, Wakana S, et al. 1995. A duplicated zone of polarizing activity in polydactylous mouse mutants. Genes Dev 9:1645-1653.
32. Masuya H, Sezutsu H, Sakuraba Y, et al. 2007. A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud. Genomics 89:207-214.
33. Morishita Y and Iwasa Y. 2008. Growth based morphogenesis of vertebrate limb bud. Bull Mathemat Biol 70:1957-1978.
34. Poplawski NJ, Swat M, Gens JS, Glazier JA. 2007. Adhesion between cells, diffusion of growth factors, and elasticity of the AER produce the paddle shape of the chick limb. Physica A 373:521-532.
35. Riddle RD, Johnson RL, Laufer E and Tabin C. 1993. Sonic hedgehog mediates the polarizing activity of ZPA. Cell 75:1401-1416.
36. Sagai T, Hosoya M, Mizushina Y, et al. 2005. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development 132:797-803.
37. Sagai T, Masuya H, Tamura M, et al. 2004. Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh). Mamm Genome 15:23-34.
38. Sahir N, Evrard P, Gressens P. 2004. Caffeine induces Sonic hedgehog gene expression in cultured astrocytes and neurons. J Mol Neurosci 24:201-205.
39. Saunders JW Jr, Gasseling MT. 1968. Ectodermal-mesenchymal interaction in the origin of limb symmetry. In: Fleischmajer R, Billingham RE, editors. Epithelial-mesenchymal interaction. Baltimore, MD: Williams and Wilkins. pp 78-97.
40. Sharpe J, Lettice L, Hecksher-Sorensen J, et al. 1999. Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. Curr Biol 9:97-100.
41. Sweet HO. 1982. Hm and Hx are not alleles. Mouse News Lett 66:66.
42. Tabin C, Wolpert L. 2007. Rethinking the proximodistal axis of the vertebrate limb in the molecular era. Genes Dev 21:1433-1442.
43. Towers M, Tickle C. 2009. Growing models of vertebrate limb development. Development 136:179-190.
44. Yu K, Ornitz DM. 2008. FGF signaling regulates mesenchymal differentiation and skeletal patterning along the limb bud proximodistal axis. Development 135:483-491.
45. Zeller R, Lópex-Ríos J, Zuniga A. 2009. Vertebrate limb development: moving towards integrative analysis of organogenesis. Nat Rev Genet 10:845-858.
46. Zhu J, Nakamura E, Nguyen MT, et al. 2008. Uncoupling Sonic hedgehog control of pattern and expansion of the developing limb bud. Dev Cell 14:624-632.