<i>Alu</i> sequences

Mighell, AJ; Markham, Alexander F.; Robinson, P.A.

doi:10.1016/s0014-5793(97)01259-3

Cited by 154 publications

(126 citation statements)

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“…39 Many of the NOS2A SNPs arose in association with recognised repeat elements, such as Alu elements, which exhibit significant sequence variation, particularly at the 3 0 end. 54 The distribution of NOS2A À2.6 microsatellite alleles is continuous (where the number of chromosomes examined is large enough to permit robust comment) and this is in keeping with the generally accepted concept of microsatellite mutation arising by 'slip-strand mispairing', where mutation largely arises from the addition or subtraction of single repeat elements. 55 Recombination may also have contributed to NOS2A À2.6 microsatellite mutation, but data from other repeat elements suggest that this mechanism is unusual in microsatellite evolution.…”

Section: Discussionmentioning

confidence: 53%

Haplotypic relationship between SNP and microsatellite markers at the NOS2A locus in two populations

et al. 2003

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The density of genetic markers required for successful association mapping of complex diseases depends on linkage disequilibrium (LD) between non-functional markers and functional variants. The haplotypic relationship between stable markers and potentially unstable but highly informative markers (e.g. microsatellites) indicates that LD might be maintained over considerable genetic distance in non-African populations, supporting the use of such 'mixed marker haplotypes' in LD-based mapping, and allowing inferences to be drawn about human origins. We investigated sequence variation in the proximal 2.6 kb of the inducible nitric oxide synthase (NOS2A) promoter and the relationship between SNP haplotypes and a pentanucleotide microsatellite (the 'NOS2A À2.6 microsatellite') in Gambians and UK Caucasians. UK Caucasians exhibited a subset of sequence diversity observed in Gambians, sharing four of 11 SNPs and a similar haplotypic structure. Five SNPs were found in the sequence of interspersed repetitive DNA elements. In both populations, there was dramatic loss of LD between SNP haplotypes and microsatellite alleles across a very short physical distance, suggesting a high intrinsic mutation rate of the NOS2A À2.6 microsatellite, the SNP haplotypes are relatively ancient, or that this was a region of frequent recombination. Understanding locus-and population-specific LD is essential when designing and interpreting genetic association studies.

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Section: Discussionmentioning

confidence: 53%

Haplotypic relationship between SNP and microsatellite markers at the NOS2A locus in two populations

et al. 2003

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“…Alu elements are short interspersed sequences that amplify in primate genomes (20,29,30). More than 5% of human alternatively spliced exons are Alu-derived (31).…”

Section: Discussionmentioning

confidence: 99%

Cloning and Characterization of a GABAA Receptor γ2 Subunit Variant

Pei

Zhang

Rowe-Teeter

et al. 2004

Journal of Biological Chemistry

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We have cloned a novel ␥-aminobutyric acid type A (GABA A ) receptor ␥ 2 subunit variant named ␥ 2 XL. ␥ 2 XL contains an alternatively spliced exon, resulting in the addition of 40 amino acids to the N-terminal extracellular domain between Ser 171 and Tyr 172 . We show that ␥ 2 XL failed to localize to the cell surface when it was coexpressed with the ␣ 2 and ␤ 1 subunits in human embryonic kidney 293 cells. Expression of ␥ 2 XL in 293 cells suppressed GABA A receptor binding in a dose-dependent manner by preventing GABA A receptor cell-surface localization. We also generated a ␥ 2 mutant with Ser 171 and Tyr 172 converted to glycine and threonine, respectively. We demonstrate that this mutant has a significantly lower affinity for the ␣ 2 and ␤ 1 subunits and failed to reach the cell surface when coexpressed with these subunits. Together, our results indicate that Ser 171 and Tyr 172 in the ␥ 2 subunit constitute a critical motif. When this motif is disrupted by insertion of the alternative exon, access of the ␥ 2 subunit to the cell surface is prevented.

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“…Localization of DSBs may be important for the formation of chromosomal translocations. It has been estimated that approximately 6-13% of genomic DNA consists of repetitive Alu sequences (Mighell et al, 1997;Roy-Engel et al, 2002). DNA sequences of surrounding breakpoint regions involved in the formation of FTKs often revealed homology to Alu (Chen et al, 1989;Chou and Morrison, 1993;Rudiger et al, 1995;Ford et al, 1998;Jeffs et al, 1998;Blanco et al, 2001).…”

Section: Aberrant Repair Of Dsbs Leading To Chromosomal Translocationsmentioning

confidence: 99%