Idioma:

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts

Ricketts, M.H ; Simons, M.J ; Parma, J ; Mercken, L ; Dong, Q ; Vassart, G

Proceedings of the National Academy of Sciences - PNAS, 1987-05, Vol.84 (10), p.3181-3184 [Periódico revisado por pares]

Washington, DC: National Academy of Sciences of the United States of America

Texto completo disponível

Citações Citado por

Enviar para

Título:
A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts
Autor: Ricketts, M.H ; Simons, M.J ; Parma, J ; Mercken, L ; Dong, Q ; Vassart, G
Assuntos: Amino Acid Sequence ; Animals ; Base Sequence ; Biological and medical sciences ; BREEDS ; CATTLE ; Cattle Diseases - genetics ; Cloning, Molecular ; Complementary DNA ; DNA ; Exons ; Fundamental and applied biological sciences. Psychology ; GANADO BOVINO ; Gene expression ; Genes ; GENETIC DISORDERS ; Genetic mutation ; Genomics ; Goiter - genetics ; Goiter - veterinary ; GROS BETAIL ; Messenger RNA ; Molecular and cellular biology ; Molecular genetics ; MUTACION ; MUTATION ; Nonsense mutation ; Nucleic Acid Hybridization ; RACE ; RAZAS ; RNA ; RNA Splicing ; RNA, Messenger - genetics ; Splicing ; Thyroglobulin - genetics ; THYROXINE ; TIROXINA ; TRASTORNOS GENETICOS ; TROUBLE GENETIQUE
É parte de: Proceedings of the National Academy of Sciences - PNAS, 1987-05, Vol.84 (10), p.3181-3184
Notas: L74
8735005
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ObjectType-Article-1
ObjectType-Feature-2
Descrição: The hereditary goitre of Afrikander cattle is an autosomal recessive disease characterized in homozygotes by the production of abnormal thyroglobulin (Tg) and the coexistence in the thyroid of normal-sized 8.4-kilobase (kb) Tg mRNA with a misspliced 7.3-kb message having lost exon 9. We have cloned and sequenced the cDNA segment corresponding to the abnormal exon 8-exon 10 junction and the relevant genomic DNA region. The mutation responsible for the disease is a cytosine to thymine transition creating a stop codon at position 697 in exon 9. The original reading frame is maintained in the 7.3-kb mRNA, which, as it lacks the mutated exon, is translatable into a potentially functional protein. This puzzling phenotype in which a mutated exon is apparently removed selectively from transcripts by alternative splicing leads us to suggest that the 7.3-kb transcript could be present in normal animals. Using a sensitive oligonucleotide hybridization assay, we have demonstrated that a 7.3-kb mRNA lacking exon 9 does exist in normal thyroids as a minor mRNA species. As it is fully translatable, the 7.3-kb mRNA is expected to be more stable than the normal-sized 8.4-kb message. This probably accounts for the higher proportion of 7.3-kb transcript found in the goitre.
Editor: Washington, DC: National Academy of Sciences of the United States of America
Idioma: Inglês

Links

Voltar para lista de resultados

Realização: Logos de Redes Sociais:

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts

Ricketts, M.H ; Simons, M.J ; Parma, J ; Mercken, L ; Dong, Q ; Vassart, G

Washington, DC: National Academy of Sciences of the United States of America

Buscando em bases de dados remotas. Favor aguardar.