Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes

Human Genetics

Volumn 131, Issue 3, 2012, Pages 415-422

  E Kalsoom, Umm ^a   Basit, Sulman ^a   Kamran Ul Hassan Naqvi, Syed ^a   Ansar, Muhammad ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

C130RF31 PROTEIN; CCDC122 PROTEIN; CHM1 PROTEIN; CKAP2 PROTEIN; DIAPH3 PROTEIN; DNA; LPAR6 PROTEIN; OSTEOCLAST DIFFERENTIATION FACTOR; PROTEIN; SUGT1 PROTEIN; TRANSCRIPTION FACTOR FKHR; TSC22D1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME 13Q; CONSANGUINITY; DNA SEQUENCE; EXON; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HUMAN; LIMIT OF DETECTION; MICROSATELLITE MARKER; PAKISTAN; POLYDACTYLY; POSTAXIAL POLYDACTYLY TYPE A; PRIORITY JOURNAL; CHROMOSOME 13; CHROMOSOME MAP; FEMALE; GENETICS; MALE; PEDIGREE; RECESSIVE GENE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HUMANS; MALE; PEDIGREE; POLYDACTYLY; SEQUENCE ANALYSIS, DNA;

EID: 84859483712     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1085-7     Document Type: Article

References (43)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
2. Akarsu AN, Ozbas F, Kostakoglu N (1997) Mapping of the second locus of postaxial polydactyly type A (PAP-A2) to chromosome 13q21-q32. Am J Hum Genet 6:A265
3. Buck-Gramcko D (1998) Angeborene Fehlbildungen der Hand. In: Nigst H, Buck-Gramcko D, Milesi H (eds) Handchirurgie. Thieme, Stuttgart, pp 12.1-12.115
4. Cantú JM, del Castillo V, Cortes R, Urrusti J (1974) Autosomal recessive postaxial polydactyly: report of a family. Birth Defects Orig Artic Ser 10:19-22
5. Choi SJ, Moon JH, Ahn YW, Ahn JH, Kim DU, Han TH (2005) Tsc-22 enhances TGF-beta signaling by associating with Smad4 and induces erythroid cell differentiation. Mol Cell Biochem 271:23-28
6. Cottingham RW Jr, Jonasson K, Frigge ML, Kong A (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:26-252
7. Frank S, Schulthess T, Landwehr R, Lustig A, Mini T, Jeno P, Engel J, Kammerer RA (2002) Characterization of the matrilin coiledcoil domains reveals seven novel isoforms. J Biol Chem 277:19071-19079
8. Frazier TM (1960) A note on race-specific congenital malformation rates. Am J Obstet Gynecol 80:184-185
9. Galan F, Garcia R, Aguilar MS, Moya M (1989) Partial trisomy 13q22-qter. A new case. Ann Genet 32:114-116
10. Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Bertoli Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P (2003) A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. Eur J Hum Genet 11:409-415
11. Glover JN, Harrison SC (1995) Crystal structure of the heterodimeric bZIP transcription factor c-Fos-c-Jun bound to DNA. Nature 373:257-261
12. Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A (2005) Allegro version 2. Nat Genet 37:1015-1016
13. Hong KU, Kim E, Bae CD, Park J (2009) TMAP/CKAP2 is essential for proper chromosome segregation. Cell Cycle 8:314-324
14. Lacey DL, Timms E, Tan HL, Kelley MJ, Dunstan CR, Burgess T, Elliott R, Colombero A, Elliott G, Scully S, Hsu H, Sullivan J, Hawkins N, Davy E, Capparelli C, Eli A, Qian YX, Kaufman S, Sarosi I, Shalhoub V, Senaldi G, Guo J, Delaney J, Boyle WJ (1998) Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation. Cell 93:165-176
15. Maltby EL (1984) Familial pericentric inversion (13) detected by antenatal diagnosis. J Med Genet 21:149-151
16. Matise TC, Chen F, Chen W, De La Vega FM, Hansen M, He C, Hyland FC, Kennedy GC, Kong X, Murray SS, Ziegle JS, Stewart WC, Buyske S (2007) A second-generation combined linkage physical map of the human genome. Genome Res 17:1783-1786
17. Mohan J (1969) Postaxial polydactyly in three Indian families. J Med Genet 6:196-200
18. Mollica F, Volti SL, Sorge G (1978) Autosomal recessive postaxial polydactyly type A in a Sicilian family. J Med Genet 15:212-216
19. Muneer RS, Donaldson DL, Rennert OM (1981) Complex balanced translocation of chromosomes 2, 3, and 13. Hum Genet 59:182-184
20. Nakamichi Y, Shukunami C, Yamada T, Aihara K, Kawano H, Sato T, Nishizaki Y, Yamamoto Y, Shindo M, Yoshimura K, Nakamura T, Takahashi N, Kawaguchi H, Hiraki Y, Kato S (2003) Chondromodulin-I is a bone remodeling factor. Mol Cell Biol 23:636-644
21. Nikolis J, Ivanovic K, Diklic V (1991) Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation. J Med Genet 28:425-426
22. O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
23. Orriss IR, Burnstock G, Arnett TR (2010) Purinergic signalling and bone remodeling. Curr Opin Pharmacol 10:322-330
24. Paul AS, Pollard TD (2009) Review of the mechanism of processive actin filament elongation by formins. Cell Motil Cytoskelet 66:606-617
25. Pilgaard B, Jorgensen E, Knudsen VS, Mortensen E, Mikkelsen M (1983) Familial inversion translocation (8;13) with partial trisomy 13 in several family members. Eur J Pediatr 140:105-108
26. Prieto F, Badia L, Asensi F, Roques V (1980) Two reciprocal translocations (9p?;13q-) and t(13q-;21q?): a study of the families. Hum Genet 54:7-11
27. Radhakrishna U, Blouin J-L, Mehenni H, Patel UC, Patel MN, Solanki JV, Antonarakis SE (1997a) Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am J Hum Genet 60:597-604
28. Radhakrishna U, Wild A, Grzeschik KH, Antonarakis SE (1997b) Mutation in GLI3 in postaxial polydactyly type A. Nat Genet 17:269-271
29. Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132:365-386
30. Sakata R, Usui T, Mimaki M, Araie M (2008) Developmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication. Arch Ophthalmol 126:431-432
31. Schwabe GC, Mundlos S (2004) Genetics of congenital hand anomalies. Handchir Mikrochir Plast Chir 36:85-97
32. Swanson AB (1976) A classification for congenital limb malformations. J Hand Surg [Am] 1:8-22
33. Teixeira CC, Liu Y, Thant LM, Pang J, Palmer G, Alikhani M (2010) FOXO1, a novel regulator of osteoblast differentiation and skeletogenesis. J Biol Chem 285:31055-31065
34. Temtamy S, Mckusick V (1978) Polydactyly as an isolated malformation. In: Temtamy S, McKusick V (eds) The genetics of hand malformations. Birth defects, vol 14. Alan R Liss Inc, New York, pp 364-392
35. Temtamy SA (1990) Polydactyly, postaxial. In: Buyse ML (ed) Birth defects encyclopedia. Blackwell Scientific, Cambridge, pp 1397-1398
36. Tharapel SA, Lewandowski RC, Tharapel AT, Wilroy RS Jr (1986) Phenotype karyotype correlation in patients trisomic for various segments of chromosome 13. J Med Genet 23:310-315
37. Thiele H, Nürnberg P (2004) HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 21:1730-1732
38. Tsuchihara K, Lapin V, Bakal C, Okada H, Brown L, Hirota-Tsuchihara M, Zaugg K, Ho A, Itie-Youten A, Harris-Brandts M, Rottapel R, Richardson CD, Benchimol S, Mak TW (2005) Ckap2 regulates aneuploidy, cell cycling and cell death in a p53-dependent manner. Cancer Res 65:6685-6691
39. Van der Zwaag PA, Dijkhuizen T, Gerssen-Schoorl KB, Colijn AW, Broens PM, Flapper BC, van Ravenswaaij-Arts CM (2010) An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2. Eur J Med Genet 53:45-49
40. Watanabe S, Ando Y, Yasuda S, Hosoya H, Watanabe N, Ishizaki T, Narumiya S (2008) mDia2 induces the actin scaffold for the contractile ring and stabilizes its position during cytokinesis in NIH 3T3 cells. Mol Biol Cell 19:2328-2338
41. Webb TE, Kaplan MG, Barnard EA (1996) Identification of 6H1 as a P2Y purinoceptor: P2Y5. Biochem Biophys Res Commun 219:105-110
42. Zeller R, Haramis AG, Zuniga A, McGuigan C, Dono R, Davidson G, Chabanis S, Gibson T (1999) Formin defines a large family of morphoregulatory genes and functions in establishment of the polarising region. Cell Tissue Res 296:85-93
43. Zhao H, Tian Y, Breedveld G, Huang S, Zou Y, Y J, Chai J, Li H, Li M, Oostra BA, Lo WHY, Heutink P (2002) Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. Eur J Hum Genet 10:162-166