A ubiquitous family of repeated DNA sequences in the human genome

Houck, Catherine M.; Rinehart, Frank P.; Schmid, Carl W.

doi:10.1016/0022-2836(79)90261-4

Cited by 397 publications

(167 citation statements)

References 31 publications

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“…Previously, it has been shown that a significant representation of Alu repeats is positioned at the boundaries of these segmental duplications [124]. Alu repeats are repetitive short interspersed nuclear elements (SINE) of less than 500 base pairs (bp) in size, containing a recognition site for the restriction enzyme Alu [125]. Depending on their appearance, they can be categorized into three different subfamilies -AluJ, AluS and AluY [124].…”

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

213

161

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. The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

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Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

213

161

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“…Scattered throughout the human genome, occured as unique events in our evolution and apparently selectively neutral (Batzer & Deininger, 2002), polymorphic Alu insertions (PAI) have been intensively used. Alu elements are the predominant type of short interspersed elements (SINEs) in the human genome, with over 1 million copies comprising 10% of the total genome (Houck et al, 1979;Venter et al, 2001). The amplification of Alu elements through evolutionarily recent events coincided with the radiation of primates (Batzer and Deininger, 2002;Kapitonov and Jurka, 1996).…”

Section: Would Havementioning

confidence: 99%

Human Alu Insertion Polymorphisms in North African Populations

et al. 2011

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Several features make Alu insertions a powerful tool used in population genetic studies: the polymorphic nature of many Alu insertions, the stability of an Alu insertion event and, furthermore, the ancestral state of an Alu insertion is known to be the absence of the Alu element at a particular locus and the presence of an Alu insertion at the site that forward mutational change. This study analyses seven Alu insertion polymorphisms in a sample of 297 individuals from the autochthonous population of Tunisia (Thala, Smar, Zarzis and Bou Salem) and Libya with the aim of studying their genetic structure with respect to the populations of North Africa, Western, Eastern and Central Europe. The comparative analyses carried out using the MDS and AMOVA methods reveal the existence of spatial heterogeneity, and identify four population groups. Study populations (Libya, Smar, ZarzisPre-print version. Visit

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“…Most eucaryotic genes contain intervening sequences that require proper processing in order for the transcript to be transported into the cytoplasm (23 (56) genes. Members of the human alu family (26,30,54) of dispersed repetitive sequences have been found in the cluster of human P-globin genes (18) and distal to the human insulin gene (5). The repetitive sequences surrounding the human HSP70 gene are not present in the hamster genome and are distinct from the human alu family, as no homology was detectable by hybridization with the alu member cloned in Blur 8 (15; other data not shown).…”

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confidence: 99%

Structure and expression of the human gene encoding major heat shock protein HSP70.

Wu¹,

1985

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We have cloned a human gene encoding the 70,000-dalton heat shock protein (HSP70) from a human genomic library, using the Drosophila HSP70 gene as a heterologous hybridization probe. The human recombinant clone hybridized to a 2.6-kilobase polyadenylated mRNA from HeLa cells exposed to 43°C for 2 h. The 2.6-kilobase mRNA was shown to direct the translation in vitro of a 70,000-dalton protein similar in electrophoretic mobility to Human tissue culture cells respond to heat shock, and certain other stimuli, by the induced synthesis of a small set of proteins (molecular weights 100,000, 70,000, and 37,000 [58]). The effect of heat shock on the pattern of protein synthesis in human cells is similar to that for other eucaryotic cells (reviewed in reference 55). This highly conserved response-the activation of a small number of genes and the repression of other normally active genes-has been most intensively studied in Drosophila (1). The altered protein synthetic pattern is, in general, a reflection of both the preferential transcription of heat shock genes and the selected translation of their mRNAs.The major heat shock protein synthesized by eucaryotic cells belongs to a family of 70,000-dalton proteins (HSP70). The conservation of HSP70 among species is revealed by the similar sizes, apparent isoelectric points, and tryptic peptide patterns (64). Indeed, polyclonal antibodies raised against chicken HSP70 cross-react with proteins of similar size from yeast, Drosophila, Xenopus, mice, and humans (32). In Drosophila, the HSP70 multigene family encodes two heat shock proteins, HSP68 and HSP70 (25), and three cognate proteins (27) whose synthesis occurs at normal temperature and which are not heat shock inducible. Drosophila melanogaster has five copies of the HSP70 gene, two at the 87A chromosomal locus and three at the 87C locus (25). Similarly, Saccharomyces cerevisiae contains two copies of the HSP70 gene (28).The sequence conservation of the HSP70 genes among species has been used to isolate the homologous genes from yeast (28) (31). In this study, we describe the structural features of the human HSP70 gene: the organization of the genomic clone and the location of the 5' and 3' termini of the heat shock-induced HSP70 transcript. We examine the expression of the human HSP70 gene in hamster cells and of a chimeric HSP70 bacterial chloramphenicol acetyltransferase (CAT) gene in human cells. MATERIALS AND METHODSGeneral methods. The human genomic lambda library (39) was generously provided by T. Maniatis. Approximately 5 x 105 recombinant phage were screened (22) for sequences homologous to a subclone (plasmid 232.1; 41) containing 1.1 kilobase (kb) of coding sequence adjacent to the 5' end of the Drosophila HSP70 gene. Hybridizing plaques were purified, and DNA was isolated from phage particles banded by equilibrium CsCl centrifugation (42).Genomic DNA was prepared from human placental tissue lysed with sodium dodecyl sulfate (SDS) and digested with proteinase K (8). Subclones of H3-1 were constructed with the v...

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A ubiquitous family of repeated DNA sequences in the human genome

Cited by 397 publications

References 31 publications

The genomic basis of the Williams – Beuren syndrome

The genomic basis of the Williams – Beuren syndrome

Human Alu Insertion Polymorphisms in North African Populations

Structure and expression of the human gene encoding major heat shock protein HSP70.

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