Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

Human Genetics

Volumn 106, Issue 4, 2000, Pages 432-439

  Hargrave, Murray ^a   James, Kristy ^a   Nield, Kerry ^b   Toomes, Carmel ^b   Georgas, Kylie ^a   Sullivan, Timothy ^c,d   Verzijl, Harriet T F M ^e   Oley, Christine A ^c   Little, Melissa ^a   De Jonghe, Peter ^f   Kwon, Jennifer M ^g   Kremer, Hannie ^e   Dixon, Michael J ^b   Timmerman, Vincent ^f   Yamada, Toshiya ^a   Koopman, P ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d Terrace Eye Centre ^*  (Australia)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^g WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; BRAIN DEVELOPMENT; CHROMOSOME 3Q; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MAPPING; GENE SEQUENCE; GENETIC CONSERVATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTERNEURON; MOEBIUS SYNDROME; MOLECULAR CLONING; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPINAL CORD;

VERTEBRATA;

EID: 0034013138     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000266     Document Type: Article

References (44)

1. Amati P, Chomel J-C, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D (1995) A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet 96:213-215
2. Amati P, Gasparini P, Zlotogora J, Zelante L, Chomel J-C, Kitzis A, Kaplan J, Bonneau D (1996) A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet 58:1089-1092
3. Arsic N, Rajic T, Stanojcic S, Goodfellow PN, Stevanovic M (1998) Characterisation and mapping of the human SOX14 gene. Cytogenet Cell Genet 83:139-146
4. Baranov VS, Schwartzman AL, Gorbunova VN, Gaitskhoki VS, Rubtsov NB, Timchenko NA, Neifakh SA (1987) Chromosomal localization of ceruloplasmin and transferrin genes in laboratory rats, mice and in man by hybridization with specific DNA probes. Chromosoma 96:60-66
5. Cameron FJ, Sinclair AH (1997) Mutations in SRY and SOX9: testis-determining genes. Hum Mutat 9:388-395
6. Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Episkopou V, Stevanovic M, Goodfellow PN, Lovell-Badge R (1996) A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2, Development 122:509-520
7. De Baere E, Van Roy N, Speleman F, Fukushima Y, De Paepe A, Messiaen L (1999) Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpoint. Genomics 57:70-78
8. De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin J-J, Van Broeckhoven C (1997) Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 62: 570-573
9. Don RH, Cox PT, Wainwright BJ, Baker K, Mattick JS (1991) "Touchdown" PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res 19:40088
10. Elliott JL, Kwon JM, Goodfellow PJ, Yee W-C (1997) Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. Neurology 48:23-28
11. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C ,Weller PA, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530
12. Gasparini P, De Fazio A, Croce AI, Stanziale P, Zelante L (1998) Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. J Med Genet 35:666-667
13. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Münsterberg A, Vivian N, Goodfellow P, Lovell-Badge R (1990) A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245-250
14. Hargrave M, James K, Yamada T, Koopman P (2000a) Sox14 maps to mouse chromosome 9 and shows no mutations in the neurological mouse mutants ducky, tippy and El-1. Mamm Genome (in press)
15. Hargrave M, Karunaratne A, Cox L, Wood S, Koopman P, Yamada T (2000b) The HMG box transcription factor gene Sox14 marks a novel subset of ventral interneurons and is regulated by Sonic hedgehog. Dev Biol 219:142-153
16. Harrar HS, Jeffery S, Patton MA (1995) Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet 32:774-777
17. Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF, Hermann J, Schinzel A (1983) The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year old boy first reported by Maroteaux et al. in 1971. Am J Med Genet 15:3-28
18. Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kääriäinen H, Brown S, Chapelle A de la, Sankila E-M (1996) Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 38:255-263
19. Kozak M (1989) The scanning model for translation: an update. J Cell Biol 108:229
20. Kremer H, Kuyt LP, Helm B van den, Reen M van, Leunissen JAM, Hamel BCJ, Jansen C, Mariman ECM, Frants RR, Padberg GW (1996) Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. Human Mol Genet 5:1367-1371
21. Kuhlbrodt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M, Wegner M (1998) Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem 273:23033-23038
22. Kwon JM, Elliott JL, Yee W-C, Ivanovich J, Scavarda NJ, Moolsintong PJ, Goodfellow PJ (1995) Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 57:853-858
23. Lawson CT, Toomes C, Fryer A, Carette MJM, Taylor GM, Fukushima Y, Dixon MJ (1995) Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet 4:963-967
24. Lee FA, Issacs H, Strauss J (1972) The "camptomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities. Am J Dis Child 124:485-496
25. Malas S, Duthie S, Deloukas P, Episkopou V (1999) The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3. Mamm Genome 10:934-937
26. Messiaen L, Leroy BP, De Bie S, De Pauw K, Van Roy N, Speleman F, Van Camp G, De Paepe A (1996) Refined genetic and physical mapping of BPES type II. Eur J Hum Genet 4:34-38
27. Nelis E, Haites N, Van Broeckhoven C (1999) Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat 13:11-28.
28. Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G (1999) Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet 65:111-124
29. Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu M-O, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Clayton Smith J, Read AP, Wegner M, Goossens M (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nature Genet 18: 171-173
30. Slee JJ, Smart RD, Viljoen DL (1991) Deletion of chromosome 13 in Meobius syndrome. J Med Genet 28:413-414
31. Small KW, Stalvey M, Fisher L, Mullen L, Dickel C, Beadles K, Reimer R, Lessner A, Lewis K, Pericak-Vance MA (1995) Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet 4:443-448
32. Stevanovic M, Lovell-Badge R, Collignon J, Goodfellow PN (1993) SOX3 is an X-linked gene related to SRY. Hum Mol Genet 3:2013-2018
33. Toomes C, Dixon MJ (1998) Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23. Genomics 53:308-314
34. Uchikawa M, Kamachi Y, Kondoh H (1999) Two distinct sub-groups of Group B Sox genes for transcriptional activators and repressors: their expression during embryonic organogenesis of the chicken. Mech Dev 84:103-120
35. Uwanogho D, Rex M, Cartwright EJ, Pearl G, Healy C, Scotting P, Sharpe PT (1995) Embryonic expression of the chicken Sox2, Sox3 and Sox11 genes suggests an interactive role in neural development. Mech Dev 49:23-36
36. Verzijl HTFM, Helm B van den, Veldman B, Hamel BCJ, Kuyt LP, Padberg GW, Kremer H (1999) A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family. Am J Hum Genet 65:752-756
37. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111-1120
38. Walter MA, Spillett DJ, Thomas P, Weissenbach J, Goodfellow PN (1994) A method for constructing radiation hybrid maps of whole genomes. Nat Genet 7:22-28
39. Wegner M (1999) From head to toes: the multiple facets of Sox proteins. Nucleic Acids Res 27:1409-1420
40. Wes PD, Chevesich J, Jeromin A, Rosenberg C, Stetten G, Montell C (1995) TRPC1, a human homolog of a Drosophila store-operated channel. Proc Natl Acad Sci USA 92:9652-9656
41. Wicking C, Breen M, Negus K, Berkman J, Evdokiou A, Cowled P, Chenevix-Trench G, Wainwright B (1995) The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome. Cytogenet Cell Genet 68:119-121
42. Yamazaki K, Okada T, Mori Y, Tanaka I (1998) Genetic mapping of mouse transient receptor potential (Trrp) genes responsible for capacitative calcium entry channels to chromosomes 3, 7, 9, and X. Genomics 51:303-305
43. Ziter FA, Wiser WC, Robinson A (1977) Three-generation pedigree of Möbius syndrome variant with chromosome translocation. Arch Neurol 34:437-442
44. Zlotogora J, Sagi M, Cohen T (1983) The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 35:1020-1027