HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1

Cytogenetic and Genome Research

Volumn 121, Issue 3-4, 2008, Pages 189-195

  Wang, L L ^a   Fu, W N ^a   Li Ling, J ^a   Li, Z G ^a   Li, L Y ^a   Sun, K L ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN FHL 1; PROTEIN HOX D13; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CLUBFOOT; CONTROLLED STUDY; GEL MOBILITY SHIFT ASSAY; GENE INTERACTION; IDIOPATHIC DISEASE; IMMUNOFLUORESCENCE; LIMB DEVELOPMENT; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT;

ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CHROMATIN IMMUNOPRECIPITATION; CLUBFOOT; DNA PRIMERS; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HOMEODOMAIN PROTEINS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUSCLE PROTEINS; PROMOTER REGIONS (GENETICS); RATS; RATS, SPRAGUE-DAWLEY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

RATTUS;

EID: 50849130584     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000138884     Document Type: Article

References (33)

1. Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, et al: A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 13:2351-2359 (2004).
2. Brewer C, Holloway S: A chromosomal deletion map of human malformations. Am J Hum Genet 63:1153-1159 (1998).
3. Buckingham M: Skeletal muscle progenitor cells and the role of Pax genes. C R Biol 330:530-533 (2007).
4. Cardy AH, Barker S, Chesney D, Sharp L, Maffulli N, Miedzybrodzka Z: Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study. BMC Musculoskelet Disord 8:62 (2007).
5. Chapman C, Stott NS, Port RV, Nicol RO: Genetics of clubfoot in Maori and Pacific people. J Med Genet 37:680-683 (2000).
6. D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E: EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5-prime end of HOX4 locus on chromosome 2. Genomics 10:43-50 (1991).
7. Di Padova M, Caretti G, Zhao P, Hoffman EP, Sartorelli V: MyoD acetylation influences temporal patterns of skeletal muscle gene expression. J Biol Chem 282:37650-37659 (2007).
8. Dollé P, Izpisúa-Belmonte JC, Boncinelli E, Duboule D: The Hox-4.8 gene is localized at the 5′ extremity of the Hox-4 complex and is expressed in the most posterior parts of the body during development. Mech Dev 36:3-13 (1991).
9. Favier P, Dolle B: Developmental functions of mammalian Hox genes. Mol Hum Reprod 3:115-131 (1997).
10. Goodman FR: Limb malformations and the human HOX genes. Am J Med Genet 112:256-265 (2002).
11. Graba Y, Aragnol D, Pradel J: Drosophila Hox complex downstream targets and the function of homeotic genes. Bioessays 19:379-388 (1997).
12. Greene WK, Baker E, Rabbitts TH, Kees UR: Genomic structure, tissue expression and chromosomal location of the LIM-only gene, FHL1. Gene 232:203-207 (1999).
13. Gupta P, Singla R, Gupta R, Jindal R, Bahadur R: Accessory soleus muscle in clubfoot deformity: a report in four feet. J Pediatr Orthop B 16:106-109 (2007).
14. Heck AL, Bray MS, Scott A, Blanton SH, Hecht JT: Variation in CASP10 gene is associated with idiopathic talipes equinovarus. J Pediatr Orthop 25:598-602 (2005).
15. Herceg MB, Weiner DS, Agamanolis DP, Hawk D: Histologic and histochemical analysis of muscle specimens in idiopathic talipes equinovarus. J Pediatr Orthop 26:91-93 (2006).
16. Huber C, Odent S, Rumeur S, Padovani P, Penet C, et al: Sulphate transporter gene mutations in apparently isolated club foot. J Med Genet 38:191-193 (2001).
17. Krumlauf R: Hox genes in vertebrate development. Cell 78:191-201 (1994).
18. Lee SMY, Tsui SKW, Chan KK, Garcia-Barcelo M, Waye MMY, et al: Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1). Gene 216:163-170 (1998).
19. Loughna PT, Mason P, Bayol S, Brownson C: The LIM-domain protein FHL1 (SLIM 1) exhibits functional regulation in skeletal muscle. Mol Cell Biol Res 3:136-140 (2000).
20. Miedzybrodzka Z: Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand. J Anat 202:37-42 (2003).
21. Miyake M, Hayashi S, Sato T, Taketa Y, Watanabe K, et al: Myostatin and MyoD family expression in skeletal muscle of IGF-1 knockout mice. Cell Biol Int 31:1274-1279 (2007).
22. Muragaki Y, Mundlos S, Upton J, Olsen BR: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551 (1996).
23. Nelson CE, Morgan BA, Burke AC, Laufer E, Di-Mambro E, et al: Analysis of Hox gene expression in the chick limb bud. Development 122:1449-1466 (1996).
24. Omeroǧlu S, Peker T, Omeroǧlu H, Gülekon N, Mungan T, Danişman N: Intrauterine structure of foot muscles in talipes equinovarus due to high-level myelomeningocele: a light microscopic study in fetal cadavers. J Pediatr Orthop B 13:263-267 (2004).
25. Rambani R, Shahid MS: Accessory soleus muscle as a cause of congenital talipes equinovarus. A case report. Acta Orthop Belg 72:644-646 (2006).
26. Rebbeck TR, Dietz FR, Murray JC, Buetow KH: A single gene explanation for the probability of having idiopathic talipes equinovarus. Am J Hum Genet 53:1051-1063 (1993).
27. Robinson PA, Brown S, McGrath MJ, Coghill ID, et al: Skeletal muscle LIM protein 1 regulates integrin-mediated myoblast adhesion, spreading, and migration. Am J Physiol Cell Physiol 284:681-695 (2003).
28. Scott MP: A rational nomenclature for vertebrate homeobox (HOX) genes. Nucleic Acids Res 21:1687-1688 (1993).
29. Wang LL, Jin Cl, Liu LY, Zhang X, Ji SJ, Sun KL: Analysis of association between 5′ HOXD gene and idiopathic congenital talipes equinovarus. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:653-656 (2005).
30. Wang LL, Wei-Neng FU, Zeng-Gang LI, Kai-Lai Sun: Research of HOXD13 and FHL1 in idiopathic congenital talipes equinovarus. Yi Chuan 30:46-50 (2008).
31. Williams TM, Williams ME, Kuick R, Misek D, McDonagh K, et al: Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability. Dev Biol 279:462-480 (2005).
32. Windisch G, Anderhuber F, Haldi-Brändle V, Exner GU: Additional muscle in idiopathic club foot. Eur J Pediatr Surg 16:294-296 (2006).
33. Wynne-Davies R: Genetic and environmental factors in the etiology of talipes equinovarus. Clin Orthop 84:9-13 (1972).