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  • 1
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Biochemistry 24 (1985), S. 117-125 
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1432
    Keywords: Human evolution ; African origin ; Identical by descent ; Polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The Alu family of intersperesed repeats is comprised of ovr 500,000 members which may be divided into discrete subfamilies based upon mutations held in common between members. Distinct subfamilies of Alu sequences have amplified within the human genome in recent evolutionary history. Several individual Alu family members have amplified so recently in human evolution that they are variable as to presence and absence at specific loci within different human populations. Here, we report on the distribution of six polymorphic Alu insetions in a survey of 563 individuals from 14 human population groups across several continents. Our results indicate that these polymorphic Alu insertions probably have an African origin and that there is a much smaller amount of genetic variation between European populations than that found between other populations groups.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Biochemical genetics 17 (1979), S. 223-227 
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Genetica 108 (2000), S. 57-72 
    ISSN: 1573-6857
    Keywords: Alu ; evolution ; human specific ; polymorphism ; retroposition ; SINES ; 7SL RNA ; YAP
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Aluinsertional elements, the most abundant class of SINEs in humans are dimeric sequences approximately 300 bp in length derived from the 7SL RNA gene. These sequences contain a bipartite RNA pol III promoter, a central poly A tract, a 3′ poly A tail, numerous CpG islands and are bracketed by short direct repeats. An estimated 500,000 to 1 × 106units are dispersed throughout the human haploid genome primarily in AT rich neighborhoods located within larger GC dense chromosomal regions via a mechanism known as retroposition. Retroposition activity of Aluelements is determined by both internal and flanking regulatory elements as well as distant genes affecting transcription or transcript stability. Aluelements impact the organization and expression of the human genome at many levels including the processes of recombination, transcription and translation. Twelve subfamilies of Aluare defined by distinct patterns of diagnostic base substitutions. Subfamilies may be classified as young, intermediate or old reflecting the time since the start of retroposition by their members. Some insertions of the youngest subfamilies are not yet fixed in the human species and represent polymorphic loci. Alus are excellent molecular markers for a variety of reasons. They aid in tracing the complex pattern of duplication and rearrangements that occurred during the evolution of primate genome. Unlike other mutations, Alusequences are rarely lost completely once retroposed, have a defined ancestral state and are free from homoplasy since independent and identical insertions are highly unlikely. Because of these characteristics, Alus are literally molecular fossils. Polymorphic Aluloci are especially useful in studies of human genetic diversity and in pedigree and forensicanalysis.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1573-6857
    Keywords: allelic frequencies ; phylogenetic analyses ; polymorphic Alu insertions ; point mutations ; population trees
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Allelic frequency data derived from five polymorphic Alu insertion loci and five point mutation polymorphic loci were compared to determine their ability to infer phylogenetic relationships among human populations. While point mutation polymorphisms inferred a monophyletic Caucasian clade that is corroborated by other studies, these data failed to support the generally accepted monophyly of Orientals with native Americans. In addition, there is less statistical bootstrap support for the maximum-likelihood tree derived from the point mutation polymorphisms as compared to those generated from either the Alu insertion data or the combined Alu insertion+point mutation data. The Alu data and the combined Alu insertion+point mutation data inferred a monophyletic relationship among the Oriental and native American populations. The Alu insertion data and the combined Alu insertion+point mutation data also displayed two separate, well defined, tight clusters of the Caucasian and the Oriental+native American populations which was not inferred from the point mutation data. These findings indicate greater phylogenetic information contained in Alu insertion frequencies than in allelic frequencies derived from point-mutations.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1573-6857
    Keywords: amplified fragment length polymorphism ; forensic PCR analysis ; subpopulation structure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract By analyzing the allelic frequencies at the D1S80 locus in 43 human populations, we show that the locus is polymorphic globally and that it can be used to discriminate between major racial groups and subpopulations through phylogenetic analysis. Although the use of informative multiple loci generally provides more accurate phylogenetic relationships, in instances where time and/or target DNA availability is limited, D1S80 could provide useful data to discriminate between human groups. Also, knowledge of which loci independently provide accurate phylogenetic relationships, such as the D1S80, can be used to design more accurate multi-locus combinations. In addition, allele frequencies at the locus are reported, for the first time, for Bahamian individuals of African origin and for Chimila, Bari, and Navajo (Cañoncito Valley) native Americans. Allelic data was obtained using standard polymerase chain reaction (PCR) techniques. In the four new populations, 65 genotypes and 20 segregating alleles were observed. All populations conformed to Hardy-Weinberg expectations except the Chimila.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 0173-0835
    Keywords: Alu repeats ; Population genetics ; Paternity testing ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Alu sequences represent the largest family of short interspersed repetitive elements (SINEs) in humans with 500 000 copies per genome. Recently, one Alu subfamily was found to be human specific (HS). We originally described the use of polymorphic HS Alu insertions as a tool in population studies and recently as tools in DNA fingerprinting and forensic analysis. In this report, we will use this simple polymerase chain reaction (PCR) base technique for the detection of HS Alu insertion polymorphisms. We will test the resolving power of this DNA profiling approach in both population genetics and paternity assessment. At the population level, we will describe the genotypic distribution of five polymorphic Alu insertions among 3 populations from the American continent, one of African origin, the other two Amerindians. Insight into their relationships will be provided. At the family level, we will examine one European American family of seven individuals and the same pedigree will also be characterized by way of the two systems currently and widely used to ascertain paternity: PCR-sequence specific oligonucleotide probe hybridization (PCR-SSO) and PCR-restriction fragment length polymorphism (PCR-RFLP) of human leucocyte antigen (HLA) class II molecules, and a standard RFLP protocol used in forensic casework and paternity studies. The importance and strengths of the method as well as its perspectives for future use in filiation studies will be evaluated.
    Additional Material: 7 Ill.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Electrophoresis 19 (1998), S. 1260-1264 
    ISSN: 0173-0835
    Keywords: Alu family of repeats ; Retroposition ; Gene function ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Alu elements are a family of short interspersed repetitive elements (SINEs) found exclusively in primates. These elements are around 300 base pairs long, are found in excess of one million copies per diploid genome, and are dispersed throughout the human genome. Alu elements are scattered by a mechanism called “retrotransposition”. Three independent steps are involved in retrotransposition: transcription of the Alu repetitive element, reverse transcription of the Alu RNA and integration of the Alu cDNA. The fact that Alu elements retrotranspose so readily suggests that they have a myriad of effects on the genome, mostly by inactivating genes or altering their function. These characteristics of Alu repetitive elements point to these repetitive DNA fragments as a major driving force for evolution. In addition, Alu elements are known to adopt diverse functions depending on the context of the surrounding genetic material into which they insert. In this article, we review some of the evidence that demonstrates the functional significance of Alu repeats.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Electrophoresis 19 (1998), S. 2373-2379 
    ISSN: 0173-0835
    Keywords: Alu repeats ; Multiplex polymerase chain reaction ; Insertion polymorphisms ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Alu sequences are present in humans in excess of 500 000 copies per haploid genome and represent the largest family of short interspersed repetitive elements (SINEs). These mobile genetic elements are ancestrally derived from the 7SL RNA gene and move throughout the genomes of primates by retroposition. Polymorphic Alu insertions have proven to be useful for population studies, paternity determinations and forensic applications. Additionally, a simple polymerase chain reaction (PCR)-based assay has been established to examine these polymorphisms. In the present study, we have applied the technique of multiplex polymerase chain reaction to the Alu polymorphic system. Duplex and triplex PCR reactions were performed for the analysis of five different Alu polymorphic loci in different combinations. This study represents a starting point for further experimentation to improve and eventually optimize Alu multiplex PCR.
    Additional Material: 5 Ill.
    Type of Medium: Electronic Resource
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