Short tandem repeat typing in exon 1 of the androgen receptor gene

Fujii, Kenji; Okiura, Tatsuyuki; Nishimura, Koji; Orimoto, Chitoshi; Nishimukai, Hiroaki

doi:10.1016/s1344-6223(02)00111-6

Cited by 5 publications

(3 citation statements)

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“…Our discovery of extensive length polymorphism for glutamine repeats is consistent with reports suggesting that CAG and CAA trinucleotide repeats are particularly prone to replication error [19,48-50]. The similarity in measures of variation between coding and noncoding repeats suggests that similar mutational processes affect both types of repeats in stalk-eyed flies.…”

Section: Discussionsupporting

confidence: 89%

Length polymorphism and head shape association among genes with polyglutamine repeats in the stalk-eyed fly, Teleopsis dalmanni

et al. 2010

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BackgroundPolymorphisms of single amino acid repeats (SARPs) are a potential source of genetic variation for rapidly evolving morphological traits. Here, we characterize variation in and test for an association between SARPs and head shape, a trait under strong sexual selection, in the stalk-eyed fly, Teleopsis dalmanni. Using an annotated expressed sequence tag database developed from eye-antennal imaginal disc tissues in T. dalmanni we identified 98 genes containing nine or more consecutive copies of a single amino acid. We then quantify variation in length and allelic diversity for 32 codon and 15 noncodon repeat regions in a large outbred population. We also assessed the frequency with which amino acid repeats are either gained or lost by identifying sequence similarities between T. dalmanni SARP loci and their orthologs in Drosophila melanogaster. Finally, to identify SARP containing genes that may influence head development we conducted a two-generation association study after assortatively mating for extreme relative eyespan.ResultsWe found that glutamine repeats occur more often than expected by amino acid abundance among 3,400 head development genes in T. dalmanni and D. melanogaster. Furthermore, glutamine repeats occur disproportionately in transcription factors. Loci with glutamine repeats exhibit heterozygosities and allelic diversities that do not differ from noncoding dinucleotide microsatellites, including greater variation among X-linked than autosomal regions. In the majority of cases, repeat tracts did not overlap between T. dalmanni and D. melanogaster indicating that large glutamine repeats are gained or lost frequently during Dipteran evolution. Analysis of covariance reveals a significant effect of parental genotype on mean progeny eyespan, with body length as a covariate, at six SARP loci [CG33692, ptip, band4.1 inhibitor LRP interactor, corto, 3531953:1, and ecdysone-induced protein 75B (Eip75B)]. Mixed model analysis of covariance using the eyespan of siblings segregating for repeat length variation confirms that significant genotype-phenotype associations exist for at least one sex at five of these loci and for one gene, CG33692, longer repeats were associated with longer relative eyespan in both sexes.ConclusionAmong genes expressed during head development in stalk-eyed flies, long codon repeats typically contain glutamine, occur in transcription factors and exhibit high levels of heterozygosity. Furthermore, the presence of significant associations within families between repeat length and head shape indicates that six genes, or genes linked to them, contribute genetic variation to the development of this extremely sexually dimorphic trait.

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Section: Discussionsupporting

confidence: 89%

Length polymorphism and head shape association among genes with polyglutamine repeats in the stalk-eyed fly, Teleopsis dalmanni

et al. 2010

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“…Genotyping for the AR (CAG)n polymorphism was performed by PCR using High-Fidelity Platinum DNA Polymerase (Invitrogen, Paisley, Scotland, UK), forward primer 5 -TCC AGA ATC TGT TCC AGA GCG TGC-3 and reverse primer 5 -GCT GTG AAG GTT GCT GTT CCT CAT-3 [18], and followed by electrophoresis on Spreadex Mini gels (Elchrom Scientific, Cham, Switzerland). The number of CAG repeats was calculated from the size of the PCR products in relation to the M3 marker (Elchrom Scientific, Cham, Switzerland) and our own internal standard.…”

Section: Genotype Analysismentioning

confidence: 99%

CAG repeat polymorphism in androgen receptor gene is not directly associated with polycystic ovary syndrome but influences serum testosterone levels

Škrgatić

Baldani

Černe

et al. 2012

The Journal of Steroid Biochemistry and Molecular Biology

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“…Within protein-coding genes, repeats of the glutamine-encoding CAG and CAA codons are particularly problematic. Slippage on CAG/CAA repeats is frequent, and allelic diversity of length variants is very high (Leggo et al 1997;Kittles et al 2001;Fujii et al 2003). These "polyglutamine tracts" (polyQs) can dramatically modify the phenotypes of their host proteins: long polyQ tracts cause deleterious phenotypes in many organisms.…”

Section: Introductionmentioning

confidence: 99%

Polyglutamine expansion in Drosophila: thermal stress and Hsp70 as selective agents

2007

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Repetitive DNA sequences that encode polyglutamine tracts are prone to expansion and cause highly deleterious phenotypes of neurodegeneration. Despite this tendency,polyglutamine tracts ("polyQs") are conserved features of eukaryotic genomes. PolyQs are the most frequent protein-coding homotypic repeat in insect genomes, and are found predominantly in genes encoding transcription factors conserved from Drosophila through human. Although highly conserved across species, polyQ lengths vary widely within species. In D. melanogaster, polyQs in 25 genes have more alleles and higher heterozygosity than all other poly-amino acid tracts. The heat shock protein Hsp70 is a principal suppressor of polyQ expansions and may play a key role in modulating the phenotypes of the alleles that encode them. Hsp70 also promotes tolerance of natural thermal stress in Drosophila and diverse organisms,a role which may deplete the chaperone from buffering against polyQ toxicity. Thus in stressful environments, natural selection against long polyQ alleles more prone to expansion and deleterious phenotypes may be more effective. This hypothesis can be tested by measuring the phenotypic interactions between Hsp70 and polyQ transgenes in D. melanogaster undergoing natural thermal stress, an approach which integrates comparative genomics with experimental and ecological genetics.

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Short tandem repeat typing in exon 1 of the androgen receptor gene

Cited by 5 publications

References 4 publications

Length polymorphism and head shape association among genes with polyglutamine repeats in the stalk-eyed fly, Teleopsis dalmanni

Length polymorphism and head shape association among genes with polyglutamine repeats in the stalk-eyed fly, Teleopsis dalmanni

CAG repeat polymorphism in androgen receptor gene is not directly associated with polycystic ovary syndrome but influences serum testosterone levels

Polyglutamine expansion in Drosophila: thermal stress and Hsp70 as selective agents

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