Human Molecular Genetics, Vol 5, 669-674, Copyright © 1996 by Oxford University Press
K Morrison, C Papapetrou, J Attwood, F Hol, SA Lynch, A Sampath, B Hamel, J Burn, J Sowden, D Stott, E Mariman and YH 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 Brachyury mice
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, T has 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 T by 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-complex 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 T gene and spina
bifida.
ARTICLES
Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida
MRC Human Biochemical Genetics Unit, University College London, UK.
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