A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family

Clinica Chimica Acta

Volumn 413, Issue 13-14, 2012, Pages 1049-1052

  Wang, Binbin ^a,b   Xu, Baoqiang ^c   Cheng, Zhi ^a,b   Zhou, Xueya ^d   Wang, Jing ^a,b   Yang, Guang ^c   Cheng, Longfei ^a,b   Yang, Jun ^c   Ma, Xu ^a,b,e  

^a GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c CHINA JAPAN UNION HOSPITAL OF JILIN UNIVERSITY   (China)

^d TSINGHUA UNIVERSITY   (China)

^e WORLD HEALTH ORGANIZATION   (Switzerland)

Author keywords

Homeodomain; HOXD13; Mutation; Synpolydactyly

Indexed keywords

ARGININE; GLUTAMINE; HOMEODOMAIN PROTEIN; HOXD13 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GENE; HOXD13 GENE; HUMAN; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; POLYDACTYLY; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; SYNPOLYDACTYLY; TRANSCRIPTION INITIATION;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MUTATIONAL ANALYSIS; HEK293 CELLS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SYNDACTYLY; TRANSCRIPTION FACTORS;

VERTEBRATA;

EID: 84860373025     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.02.015     Document Type: Article

References (24)

1. Krumlauf R. Hox genes in vertebrate development. Cell 1994, 78:191-201.
2. Favier B., Dolle P. Developmental functions of mammalian Hox genes. Mol Hum Reprod 1997, 3:115-131.
3. Ruddle F.H., Bartels J.L., Bentley K.L., Kappen C., Murtha M.T., Pendleton J.W. Evolution of Hox genes. Annu Rev Genet 1994, 28:423-442.
4. Kmita M., Duboule D. Organizing axes in time and space; 25 years of colinear tinkering. Science 2003, 301:331-333.
5. Deschamps J., van Nes J. Developmental regulation of the Hox genes during axial morphogenesis in the mouse. Development 2005, 132:2931-2942.
6. Zakany J., Duboule D. Hox genes in digit development and evolution. Cell Tissue Res 1999, 296:19-25.
7. Goodman F.R. Limb malformations and the human HOX genes. Am J Med Genet 2002, 112:256-265.
8. Malik S., Grzeschik K.H. Synpolydactyly: clinical and molecular advances. Clin Genet 2008, 73:113-120.
9. Goodman F.R., Mundlos S., Muragaki Y., et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A 1997, 94:7458-7463.
10. Goodman F., Giovannucci-Uzielli M.L., Hall C., Reardon W., Winter R., Scambler P. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet 1998, 63:992-1000.
11. Caronia G., Goodman F.R., McKeown C.M., Scambler P.J., Zappavigna V. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development 2003, 130:1701-1712.
12. Fantini S., Vaccari G., Brison N., Debeer P., Tylzanowski P., Zappavigna V. A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. Hum Mol Genet 2009, 18:847-860.
13. Muragaki Y., Mundlos S., Upton J., Olsen B.R. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996, 272:548-551.
14. Matise T.C., Chen F., Chen W., et al. A second-generation combined linkage physical map of the human genome. Genome Res 2007, 17:1783-1786.
15. Abecasis G.R., Cherny S.S., Cookson W.O., Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30:97-101.
16. Zhao X., Sun M., Zhao J., et al. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet 2007, 80:361-371.
17. Gehring W.J., Qian Y.Q., Billeter M., et al. Homeodomain-DNA recognition. Cell 1994, 78:211-223.
18. Fraenkel E., Pabo C.O. Comparison of X-ray and NMR structures for the Antennapedia homeodomain-DNA complex. Nat Struct Biol 1998, 5:692-697.
19. Piper D.E., Batchelor A.H., Chang C.P., Cleary M.L., Wolberger C. Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation. Cell 1999, 96:587-597.
20. Li H., Tejero R., Monleon D., et al. Homology modeling using simulated annealing of restrained molecular dynamics and conformational search calculations with CONGEN: application in predicting the three-dimensional structure of murine homeodomain Msx-1. Protein Sci 1997, 6:956-970.
21. Hu G., Vastardis H., Bendall A.J., et al. Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. Mol Cell Biol 1998, 18:6044-6051.
22. Salsi V., Zappavigna V. Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs. J Biol Chem 2006, 281:1992-1999.
23. Zappavigna V., Renucci A., Izpisua-Belmonte J.C., Urier G., Peschle C., Duboule D. HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities. EMBO J 1991, 10:4177-4187.
24. Debeer P., Bacchelli C., Scambler P.J., De Smet L., Fryns J.P., Goodman F.R. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 2002, 39:852-856.