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Triplet repeat variability in the signal peptide sequence of the Xmrk receptor tyrosine kinase gene in Xiphophorus fish

Triplet repeat variability in the signal peptide sequence of the Xmrk receptor tyrosine kinase gene in Xiphophorus fish

Gene (Amsterdam) 224(1-2): 17-21

ISSN/ISBN: 0378-1119

DOI: 10.1016/s0378-1119(98)00520-4

Trinucleotide repeats in several human genes have been found to undergo spontaneous variation in repeat numbers in succeeding generations. Expansion of the repeat beyond a certain length causes specific pathological disorders. So far, a naturally occurring triplet repeat instability of transcribed sequences has been reported only from humans. However, the signal peptide encoding region of the receptor tyrosine kinase gene Xmrk from fish of the genus Xiphophorus contains a CTG repeat that differs in length even between closely related individuals. The consequence of this variability is signal peptides with shorter or longer hydrophobic core regions reaching, in some individuals, the critical maximum length for functional protein export or even exceeding it. In one stock, animals that are homozygous for such an allele were extremely rare, indicating that the triplet repeat length variability of the Xmrk gene of Xiphophorus may indeed have an influence on the function of the gene product and, under certain conditions, may affect the fitness of the individual.

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Accession: 011596219

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