Primate evolution of the α-globin gene cluster and its Alu-like repeats

Sawada, Ikuhisa; Schmid, Carl W.

doi:10.1016/0022-2836(86)90022-7

Cited by 48 publications

(22 citation statements)

References 34 publications

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“…We are encouraged, however, by the relative ease of detecting human-ape Alu differences. Previous comparisons of the human and chimpanzee a-globin and the human and orangutan P-globin gene clusters show that humans and apes have nearly all orthologous Alu repeats in common (13,22). Thus, the identification of diagnostic sequence features corresponding to recently transposed members provides a feasible method for identifying restriction fragment length polymorphisms and determining the frequency of Alu transposition and its effects on gene structure.…”

Section: Resultsmentioning

confidence: 99%

“…In addition, detailed sequence analyses of Alu repeats mapping near human, chimpanzee, and orangutan globin genes show that Alu repeats are neither especially mobile nor subject to sequence conversion by putative master sequences (13,22,23). Of 400 sequenced Alu repeats in the data base, 3 (including the tissue plasminogen activator [TPA] Alu and Mlvi Alu used in this study) are polymorphic insertions into the human genome (7,8,29).…”

mentioning

confidence: 96%

“…The PV consensus sequence is thus formed by inserting these mutations into the conserved consensus. radiata) DNAs were prepared as described before (22 (21) and determine the number of Alu complements in each lineage. Fragments containing PV Alus were mapped with oligonucleotide-1 and isolated.…”

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confidence: 99%

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A transpositionally and transcriptionally competent Alu subfamily.

Matera¹,

Hellmann²,

Schmid³

1990

Mol. Cell. Biol.

140

139

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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 96%

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A transpositionally and transcriptionally competent Alu subfamily.

Matera¹,

Hellmann²,

Schmid³

1990

Mol. Cell. Biol.

140

139

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“…The clustering Alu repeats occurs over a period of millions of years (Sawada and Schmid 1986;Slagel et al 1987); however, new Alu insertions have no known chromosomal integration site preferences.…”

Section: Genome Research ~ 1087mentioning

confidence: 99%

Alu fossil relics--distribution and insertion polymorphism.

Arcot¹,

Adamson²,

Lamerdin³

et al. 1996

Genome Res.

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Screening of a human genomic library with an oligonucleotide probe specific for one of the young subfamilies of Alu repeats I~YaS/8] resulted in the identification of several hundred positive clones. Thirty-three of these clones were analyzed in detail by DNA sequencing. Oligonucleotide primers complementary to the unique sequence regions flanking each Alu repeat were used in PCR-based assays to perform phylogenetic analyses, chromosomal localization, and insertion polymorphism analyses within different human population groups. All 33 Alu repeats were present only in humans and absent from orthologous positions in several nonhuman primate genomes. Seven Alu repeats were polymorphic for their presence/absence in three different human population groups, making them novel identical-by-descent markers for the analysis of human genetic diversity and evolution. Nucleotide sequence analysis of the polymorphic Alu repeats showed an extremely low nucleotide diversity compared with the subfamily consensus sequence with an average age of 1.63 million years old. The young Alu insertions do not appear to accumulate preferentially on any individual human chromosome.

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“…Alu proliferation in prosimian primates appears to have occurred in that isolated lineage since (i) galago (prosimian) Alu sequences are diagnostically different from anthropoid Alus (12) and (ii) individual Alu repeats common to anthropoid genomes cannot be found at the orthologous loci in prosimians (55,57,59). These studies indicate that a dimeric founder Alu existed in the earliest primate genome but that it subsequently amplified to different extents and evolved along different pathways in prosimian and simian genomes.…”

mentioning

confidence: 99%

A Trinucleotide Repeat-Associated Increase in the Level of Alu RNA-Binding Protein Occurred during the Same Period as the Major Alu Amplification That Accompanied Anthropoid Evolution

Chang

Sasaki-Tozawa

Green

et al. 1995

Molecular and Cellular Biology

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Nearly 1 million Alu elements in human DNA were inserted by an RNA-mediated retroposition-amplification process that clearly decelerated about 30 million years ago. Since then, Alu sequences have proliferated at a lower rate, including within the human genome, in which Alu mobility continues to generate genetic variability. Initially derived from 7SL RNA of the signal recognition particle (SRP), Alu became a dominant retroposon while retaining secondary structures found in 7SL RNA. We previously identified a human Alu RNA-binding protein as a homolog of the 14-kDa Alu-specific protein of SRP and have shown that its expression is associated with accumulation of 3-processed Alu RNA. Here, we show that in early anthropoids, the gene encoding SRP14 Alu RNA-binding protein was duplicated and that SRP14-homologous sequences currently reside on different human chromosomes. In anthropoids, the active SRP14 gene acquired a GCA trinucleotide repeat in its 3-coding region that produces SRP14 polypeptides with extended C-terminal tails. A C3G substitution in this region converted the mouse sequence CCA GCA to GCA GCA in prosimians, which presumably predisposed this locus to GCA expansion in anthropoids and provides a model for other triplet expansions. Moreover, the presence of the trinucleotide repeat in SRP14 DNA and the corresponding C-terminal tail in SRP14 are associated with a significant increase in SRP14 polypeptide and Alu RNA-binding activity. These genetic events occurred during the period in which an acceleration in Alu retroposition was followed by a sharp deceleration, suggesting that Alu repeats coevolved with C-terminal variants of SRP14 in higher primates.Ample evidence indicates that amplification of short interspersed elements (SINEs) occurred via reverse transcription of small RNA intermediaries in a process termed retroposition (52). The SINEs of many organisms are related to one or another tRNA, and these have been found widely distributed in nature, including in plants, fish, and mammals (see references 13, 43, and 44 and references therein). The Alu family of SINEs was derived from the terminal portions of the 7SL RNA component of the signal recognition particle (SRP), a small ribonucleoprotein involved in intracellular protein trafficking (6,24,27,70,71,74,77). In contrast to tRNA-like SINEs, and despite the ubiquity of 7SL SRP RNAs, Alu-related SINEs are for unknown reasons mostly limited to rodents and primates (for a recent review, see reference 13).Evolution of Alu-related SINEs apparently occurred in two major phases: an ancient period during which Alu sequences emerged as monomeric elements followed by a period of remodelling and proliferation (see reference 50 and references therein). The discovery of fossil Alu sequences provided evidence that an Alu monomer originated in an ancestor common to rodents and primates (50). The monomeric Alu-equivalent SINE referred to as B1 has since undergone substantial divergence from 7SL during its amplification to ϳ50,000 to 80,000 copies per haploid genom...

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Primate evolution of the α-globin gene cluster and its Alu-like repeats

Cited by 48 publications

References 34 publications

A transpositionally and transcriptionally competent Alu subfamily.

A transpositionally and transcriptionally competent Alu subfamily.

Alu fossil relics--distribution and insertion polymorphism.

A Trinucleotide Repeat-Associated Increase in the Level of Alu RNA-Binding Protein Occurred during the Same Period as the Major Alu Amplification That Accompanied Anthropoid Evolution

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