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      Polymorphism of a CAG trinucleotide repeat within Sry correlates with B6.YDom sex reversal.

      Nature genetics

      Y Chromosome, Amino Acid Sequence, Transcription Factors, Sex-Determining Region Y Protein, Sex Determination Analysis, Sequence Homology, Amino Acid, Repetitive Sequences, Nucleic Acid, Polymorphism, Genetic, genetics, Oligodeoxyribonucleotides, Nuclear Proteins, Molecular Sequence Data, Mice, Inbred Strains, Mice, Inbred C57BL, Mice, Male, Female, Disorders of Sex Development, DNA-Binding Proteins, DNA Primers, DNA, Base Sequence, Animals

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          Abstract

          Breeding the Y chromosome from certain Mus musculus domesticus strains onto the inbred laboratory mouse strain, C57BL/6J (B6), results in hermaphroditic progeny. This strain-dependent sex reversal suggests that there may be significant allelic variation in the murine sex determining gene, Sry. We have analysed the Sry genes from several domesticus-type Y chromosomes and show that they encode smaller proteins than the molossinus-type alleles SryB6 and Sry129. We have also identified a polymorphic stretch of trinucleotide repeats that is unique to strains causing sex reversal and show that specific changes in the predicted polyglutamine amino acid sequence at this site are associated with different degrees of sex reversal.

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          Most cited references 19

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          Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

          Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.
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            Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

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              Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins

               P. Mitchell,  R Tjian (1989)
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                Author and article information

                Journal
                8012385
                10.1038/ng0394-245

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