Standardized nomenclature for Alu repeats

@article{Batzer2004StandardizedNF,
  title={Standardized nomenclature for Alu repeats},
  author={Mark A. Batzer and Prescott L Deininger and Utha Hellmann-Blumberg and Jerzy Jurka and Damian Labuda and Carol M. Rubin and Carl W. Schmid and Ewa Ziętkiewicz and Emile Zuckerkandl},
  journal={Journal of Molecular Evolution},
  year={2004},
  volume={42},
  pages={3-6}
}
1 Human Genome Center, L-452, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, P.O. Box 808, Livermore, CA 94551, USA 2 Department of Biochemistry and Molecular Biology, Center for Human and Molecular Genetics, Louisiana State University Medical Center, 1901 Perdido St., New Orleans, LA 70112, USA 3 Department of Chemistry, University of California at Davis, Davis, CA 95616, USA 4 Linus Pauling Institute of Science and Medicine, 440 Page Mill Road, Palo Alto… Expand
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References

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TLDR
These four polymorphic Alu insertions were shown to be absent from the genomes of a number of nonhuman primates, consistent with their arising as human genetic polymorphisms sometime after the human/African ape divergence. Expand
A recent insertion of an alu element on the Y chromosome is a useful marker for human population studies.
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Phylogenetic comparisons with other Alu sequences reveal that the YAP element is a member of the polymorphic subfamily-3 (PSF-3), a previously undefined subfamily of Alu elements, which support the hypothesis that recently inserted elements result from multiple source genes. Expand
Identification of a human specificAlu insertion in the factor XIIIB gene
TLDR
A PCR-based assay was developed to detect the RFLP polymorphism, rendering it a more useful marker for genetic linkage studies and genome mapping and demonstrating the large variations in allele frequencies seen in three population groups. Expand
Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.
Frequent alterations in the structure of the complement component C1 inhibitor gene have been found in patients affected by the common variant of hereditary angioedema, characterized by low plasmaExpand
A young Alu subfamily amplified independently in human and African great apes lineages.
TLDR
Sequence analysis of PCR-amplified Sb2 repeats from human and African great apes is consistent with the model in which the founding of Sb1 subfamily variants occurred independently in chimpanzee, gorilla and human lineages. Expand
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TLDR
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TLDR
This case provides an important clue to the mechanism of inactivation of a gene by integration of a retrotransposon in patients with acholinesterasemia. Expand
Haemophilia B Due to a De Novo Insertion of a Human-Specific Alu Subfamily Member within the Coding Region of the Factor IX Gene
A de novo insertion of an Alu repeated DNA element was found within exon V of the factor IX gene in a patient with severe haemophilia B. The element interrupts the reading frame of the mature factorExpand
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No diagnostic positions are identical between Sbl and Sb2 sequences which indicates that they shared no common history after they diverged from the Sb subfamily. Expand
Recently transposed Alu repeats result from multiple source genes.
TLDR
The observation that all members of the PV subfamily end in a stretch of uninterrupted polyadenine residues rather than merely A-rich sequences is evidence for post-transcriptional polyadenylation of the presumptive RNA intermediate, and the drift of polyadenines toward tandemly repeated A- rich motifs suggests a biological function that may select for the fixation of dispersed Alu repeats. Expand
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