A minimalist approach to gene mapping: Locating the gene for acheiropodia, by homozygosity analysis

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1995-2000

  Escamilla, Michael ^a,f   DeMille, M C ^c,g   Benavides, E ^a   Roche, E ^c,h   Almasy, L ^b   Pittman, S ^a   Hauser, J ^d   Lew, D F ^a   Freimer, N B ^c   Whittle, M R ^e  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^b SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d APPLIED BIOSYSTEMS   (United States)

^e Genomic Engenharia Molecular   (Brazil)

^f Yale University School of Medicine ^*  (United States)

^g YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h NEW YORK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAZIL; CHROMOSOME 7Q; GENE FREQUENCY; GENE LOCATION; GENE MAPPING; GENETIC LINKAGE; GENOME; GENOTYPE; HEMIMELIA; HOMOZYGOSITY; HUMAN; PEDIGREE; PRIORITY JOURNAL;

EID: 0033941850     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302921     Document Type: Article

References (25)

1. Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, et al (1996) Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14: 353-356
2. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383:407-413
3. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodrigueq-Tome P, Hui L, et al (1998) A physical map of 30,000 human genes. Science 282:744-746
4. Freire-Maia A (1975) Genetics of acheiropodia (the handless and footless families of Brazil). Clin Genet 7:98-102
5. Freire-Maia A, Freire-Maia N, Morton NE, Azevedo E, Quelce-Salgado A (1975a) Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. Am J Hum Genet 27:521-527
6. Freire-Maia A, Li W-H, Maruyama T (1975b) Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics. Am J Hum Genet 27:665-675
7. Heus CH, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, et al (1999) A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics 57: 342-351
8. Heutink P, Zguricas J, van Oosterhout L, Breedveld GJ, Testers L, Sandkuijl LA, Snijders PJ, et al (1994) The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nat Genet 63:287-292
9. Houwen RH, Baharloo S, Blankenship K, Raeynmakers P, Juyn J, Sandkuyl LA, Freimer NB (1994) Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 8:380-386
10. Jamieson CR, Govaerts C, Abramowicz MJ (1999) Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 65: 1465-1469
11. Johnson RL, Tabin CJ (1997) Molecular models for limb development. Cell 90:979-990
12. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
13. Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, et al (1995) A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 11:93-95
14. Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S (1999) Genetics of limb anomalies in humans. Trends Genet 15: 409-417
15. Marigo V, Roberts DJ, Lee SM, Tsukurov O, Levi T, Gastier JM, Epstein DJ, et al (1995) Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. Genomics 28:44-51
16. Morton NE, Barbosa CAA (1981) Age, area, and acheiropody. Hum Genet 57:420-422
17. Odent S, Attie-Bitach T, Blayau M, Mathieu M, Aug J, de Delezo AL, Gall JY, et al (1999) Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet 8:1683-1689
18. Peacock W (1929) Hereditary absence of hands and feet. Eugenical News 14:46-47
19. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Sherer SW, Stui LC, et al (1996) Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360
20. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Sherer S, Lynch SA, Lindsay S, et al (1998) A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20:358-361
21. Sheffield VC, Nishimura DY, Stone EM (1995) Novel approaches to linkage mapping. Curr Opin Genet Dev 5: 335-341
22. Toledo SP, Saldanha PH (1969) A radiological and genetical investigation of acheiropody in a kindred including six cases. J Genet Hum 17:81-94
23. Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BC, Traill S, Zaleske D, et al (1994) A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nat Genet 6: 282-286
24. Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, et al (1998) Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum Genet 102:387-392
25. Zguricas J, Heus HC, Morales-Peralta E, Breedveld GJ, Kuyt B, Mumcu EF, Bakker W, et al (1999) Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the responsible gene to a 1.9 cM region on chromosome 7q36. J Med Genet 36:32-40