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The structure of thyroglobulin mRNA was analyzed in an inbred herd of Afrikander cattle with hereditary goitre. Northern transfer of RNA from affected animals revealed both a shorter (approximately 7100 bases) and a normal-sized (approximately 8200 bases) thyroglobulin mRNA when hybridized to bovine thyroglobulin cDNA clones. S1 nuclease mapping experiments established that 1100 bases are deleted in the 5' region of the smaller mRNA. Electron microscopy of RNA from animals with goitre hybridized to a bovine genomic DNA clone showed that the region deleted corresponds to exon 9 of the thyroglobulin gene. Southern blot analysis of the exon 9 region revealed differences between affected and control animals with the enzymes PstI and TaqI. Although they could reflect a linkage disequilibrium between the mutation and restriction fragment length polymorphism, it is noteworthy that these differences map in the region of the exon 9/intron 9 junction. Our results show that a genetic lesion in the thyroglobulin gene causes aberrant splicing of the pre-mRNA, and suggest that the responsible mutation is at the exon 9/intron 9 junction.
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
May 1987,
Proceedings of the National Academy of Sciences of the United States of America,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
June 1979,
Endocrinology,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
August 1983,
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
January 1985,
Biochemical and biophysical research communications,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
March 1990,
Journal of the South African Veterinary Association,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
July 1975,
Clinical endocrinology,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
August 1984,
The Journal of biological chemistry,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
January 1985,
The Journal of heredity,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
January 1991,
Thyroid : official journal of the American Thyroid Association,
M H Ricketts, and
V Pohl, and
G de Martynoff, and
C D Boyd, and
A J Bester, and
P P Van Jaarsveld, and
G Vassart
September 2007,
Clinical endocrinology,
