caa a22 4500 397575939 CHVBK 20180308164856.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.669 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.669 Genetic Mapping of the Human Homologue (T) of Mouse T(Brachyury) and a Search for Allele Association between Human T and Spina Bifida [Elektronische Daten] [Katie Morrison, Charalambos Papapetrou, John Attwood, Frans Hol, Sally A. Lynch, Anu Sampath, Ben Hamel, John Burn, Jane Sowden, David Stott, Edwin Mariman, Yvonne H. Edwards] We describe a genetic analysis of the human homologue (T) of the mouse T(Brachyury) gene; human T was recently cloned in our laboratory. The protein product of the T gene is a transcription factor crucial in vertebrates for the formation of normal mesoderm. T mutant Brachyurymice die in midgestation with severe defects in posterior mesodermal tissues; heterozygous mice are viable but have posterior axial malformations. In addition to its importance in development, Thas intrigued geneticists because of its association with the mouse t-haplotype; this haplotype is a variant form of the t-complex and is characterized by transmission ratio distortion, male sterility and recombination suppression. We have identified a common polymorphism of human Tby single strand conformation polymorphism (SSCP) and used this in mapping studies and to re-investigate the idea that human T is involved in susceptibility to the multifactorial, neural tube defect, spina bifida. Our mapping data show that human T maps to 6q27 and lies between two other genes of the t-complex, TCP1 and TCP10. These data add to the evidence that in man the genes of the t-com-plex are split into two main locations on the short and long arms of chromosome 6. We have used an allele association test which is independent of mode of inheritance and penetrance to analyse data from the spina bifida families. Using this test we find evidence for a significant (p = 0.02) association between transmission of the TIVS7-2 allele of the human Tgene and spina bifida. © 1996 Oxford University Press Morrison Katie MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut Papapetrou Charalambos MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut Attwood John MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut Hol Frans University Hospital Nijmegen, 417 Department of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands aut Lynch Sally A. Department of Human Genetics, Newcastle upon Tyne, 19/20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK aut Sampath Anu MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut Hamel Ben University Hospital Nijmegen, 417 Department of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands aut Burn John Department of Human Genetics, Newcastle upon Tyne, 19/20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK aut Sowden Jane MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut Stott David Animal Molecular Genetics Group, Department of Biochemistry, University of Warwick, Coventry CV4 7AL, UK aut Mariman Edwin University Hospital Nijmegen, 417 Department of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands aut Edwards Yvonne H. MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 669-674 0964-6906 5:5<669 1996 5 hmg https://doi.org/10.1093/hmg/5.5.669 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.669 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Morrison Katie MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut NATIONALLICENCE 700 1- Papapetrou Charalambos MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut NATIONALLICENCE 700 1- Attwood John MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut NATIONALLICENCE 700 1- Hol Frans University Hospital Nijmegen, 417 Department of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Lynch Sally A. Department of Human Genetics, Newcastle upon Tyne, 19/20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK aut NATIONALLICENCE 700 1- Sampath Anu MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut NATIONALLICENCE 700 1- Hamel Ben University Hospital Nijmegen, 417 Department of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Burn John Department of Human Genetics, Newcastle upon Tyne, 19/20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK aut NATIONALLICENCE 700 1- Sowden Jane MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut NATIONALLICENCE 700 1- Stott David Animal Molecular Genetics Group, Department of Biochemistry, University of Warwick, Coventry CV4 7AL, UK aut NATIONALLICENCE 700 1- Mariman Edwin University Hospital Nijmegen, 417 Department of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Edwards Yvonne H. MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 669-674 0964-6906 5:5<669 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford