Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome

Mammalian Genome

Volumn 8, Issue 11, 1997, Pages 841-845

  Crawford, Michael J ^a   Lanctôt, Christian ^a   Tremblay, Jacques J ^a   Jenkins, Nancy ^b   Gilbert, Debra ^b   Copeland, Neal ^b   Beatty, Barbara ^c   Drouin, Jacques ^a  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b NATIONAL CANCER INSTITUTE   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEOBOX PROTEIN PITX1; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; C57BL MOUSE; CHROMOSOME 5; CHROMOSOME MAP; COMPARATIVE STUDY; FEMALE; GENE EXPRESSION; GENETICS; HOMEOBOX; HUMAN; IN SITU HYBRIDIZATION; MALE; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR GENETICS; MOUSE; MURIDAE; PHYSIOLOGY; PRENATAL DEVELOPMENT; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SPECIES DIFFERENCE;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; EMBRYONIC AND FETAL DEVELOPMENT; FEMALE; GENE EXPRESSION; GENES, HOMEOBOX; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MURIDAE; PAIRED BOX TRANSCRIPTION FACTORS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; TRANSCRIPTION FACTORS;

EID: 0030784577     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900589     Document Type: Article

References (27)

1. Arn PH, Mankinen C, Jabs EW (1993) Mild mandibulofacial dysostosis in a child with a deletion of 3p. Am J Med Genet 46, 534-536
2. Avraham KB, Givol D, Avivi A, Yayon A, Copeland NG, Jenkins NA (1994) Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes. Genomics 21, 656-658
3. Boyle AL, Feltquite DM, Dracopoli NC, Housman DE, Ward DC (1992) Rapid physical mapping of cloned DNA on banded mouse chromosomes by fluorescence in situ hybridization. Genomics 12, 106-115
4. Copeland NG, Jenkins NA (1991) Development and applications of a molecular genetic linkage map of the mouse genome. Trends Genet 7, 113-118
5. Dixon J, Gladwin AJ, Loftus SK, Riley JH, Perveen R, Wasmuth JJ, Anand R, Dixon MJ (1994) A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. Am J Hum Genet 55, 372-378
6. Dixon MJ, Dixon J, Houseal T, Bhatt M, Ward DC, Klinger K, Landes GM (1993) Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am J Hum Genet 52, 907-914
7. Edery P, Manach Y, Le Merrer M, Till M, Vignal A, Lyonnet S, Munnich A (1994) Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. Am J Med Genet 52, 174-177
8. Fazen LE, Elmore J, Nadler HL (1967) Mandibulo-facial dysostosis, (Treacher-Collins syndrome). Am J Dis Child 113, 405-410
9. Gage PJ, Camper SA (1997) Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum Mol Genet 6, 457-464
10. Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RCM, Dixon MJ (1997) Treacher Collins Syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 5, 1533-1538
11. Green EL (1981) Linkage, Recombination and Mapping. (New York: Oxford University Press), pp 77-113
12. Heng HH, Tsui LC (1993) Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma 102, 325-332
13. Hollander WF (1981) Linkage relations of dumpy, a recessive mutant on chromosome 13 of the mouse. J Hered 72, 358-359
14. Hunt PA, Smith DI (1955) Mandibulo-facial dysostosis. Pediatrics 15, 195-199
15. Jenkins NA, Copeland NG, Taylor BA, Lee BK (1982) Organization, distribution, and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus. J Virol 43, 26-36
16. Lamonerie T, Tremblay JJ, Lanctôt C, Therrien M, Gauthier Y, Drouin J (1996) PTX1, a bicoid-related homeobox transcription factor involved in transcription of pro-opiomelanocortin (POMC) gene. Genes Dev 10, 1284-1295
17. Lanctôt C, Lamolet B, Drouin J (1997) The bicoid-related homeoprotein Ptx1 defines the most anterior domain of the embryo and differentiates posterior from anterior lateral mesoderm. Development 124, 2807-2817
18. Lichter P, Tang CJ, Call K, Hermanson G, Evans GA, Housman D, Ward DC (1990) High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247, 64-69
19. Mucchielli ML, Martinez S, Pattyn A, Goridis C, Brunet JF (1996) Otlx2, and Otx-related homeobox gene expressed in the pituitary gland and in a restricted pattern in the forebrain. Mol Cell Biol 8, 258-271
20. Rogers B (1964) Berry-Treacher Collins syndrome: a review of 200 cases. Br J Plast Surg 17, 109-136
21. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74, 5463-5467
22. Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC (1996) Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nature Genet 14, 392-399
23. Szlazak J (1953) Treacher Collins syndrome. Can Med Assoc J 69, 274-276
24. Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet 12, 130-136
25. Warren ST (1996) The expanding world of trinucleotide repeats. Science 271, 1374-1375
26. Winter RM (1996) What's in a face? Nature Genet 12, 124-129
27. Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci USA 94, 3110-3115