Search results for "Repeated sequence"
showing 10 items of 23 documents
Complex evolution of tandem-repetitive DNA in the Chironomus thummi species group.
1997
The subspecies Chironomus thummi thummi and C. t. piger display dramatic differences in the copy number and chromosomal localization of a tandemly repeated DNA family (Cla elements). In order to analyze the evolutionary dynamics of this repeat family, we studied the organization of Cla elements in the related outgroup species C. luridus. We find three different patterns of Cla element organization in C. luridus, showing that Cla elements may be either strictly tandem-repetitive or be an integral part of two higher-order tandem repeats (i.e., Hinf[lur] elements, Sal[lur] elements). All three types of Cla-related repeats are localized in the centromeres of C. luridus chromosomes. This suggest…
Transposition of minisatellite-like DNA in Chironomus midges.
1994
Cla elements are a family of tandem repetitive DNA sequences present in the genome of several Chironomus species. Interspersed clusters of Cla elements are widely distributed all over the chromosomes in C. thummi thummi, while they seem to be limited to the centromeric regions in the closely related subspecies C. t. piger. Here we present molecular evidence that this differential distribution is due to a transposition of Cla elements during evolution of the C. t. thummi genome. We have cloned a "filled" integration site (containing a Cla element cluster) from C. t. thummi and the corresponding "empty" genomic site from C. t. piger and other related species. The comparison shows that tandem…
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
2009
Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p.W2710X mutation in the 24th immunoglobulin-like repeat of filamin C was shown to be the cause of a distinct type of MFM in several German families. We studied an International cohort of 46 patients from 39 families with clinically and myopathologically confirmed MFM, in which DES, CRYAB, MYOT, and ZASP mutations have been excluded. In patients from an unrelated family a 12-nucleotide deletion (c.2997_3008del) in FLNC resulting in a predicted in-frame four-residue deletion (p.Val…
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions
2017
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats. To examine the apparent contradiction of unstable, interruption-positive SCA10 e…
Losing DNA methylation at repetitive elements and breaking bad
2021
Abstract Background DNA methylation is an epigenetic chromatin mark that allows heterochromatin formation and gene silencing. It has a fundamental role in preserving genome stability (including chromosome stability) by controlling both gene expression and chromatin structure. Therefore, the onset of an incorrect pattern of DNA methylation is potentially dangerous for the cells. This is particularly important with respect to repetitive elements, which constitute the third of the human genome. Main body Repetitive sequences are involved in several cell processes, however, due to their intrinsic nature, they can be a source of genome instability. Thus, most repetitive elements are usually meth…
Forensic animal DNA typing: Allele nomenclature and standardization of 14 feline STR markers
2014
Since the domestic cat (Felis catus) has become one of the most popular pets and owners usually develop a close relationship to their cats, it is necessary to take traces of cats into account for forensic casework. For this purpose feline short tandem (STR) repeat markers have been investigated in several earlier studies, but no detailed description of sequence data, allelic variations or a repeat-based nomenclature is available. The aim of the study was to provide a suggestion for the allele nomenclature of 14 cat STR markers according to the recommendations of the International Society for Forensic Genetics (ISFG) for human DNA typing and to present a standardized system for a secure DNA …
PCR Typing of Alu Elements — Molecular Genetics and Forensic Application
1996
Alu repeats belong to the family of short interspersed elements (SINEs) and are among the most abundant repetitive DNA sequences in the mammalian genome. They represent mobile genetic elements ancestrally derived from the 7SL RNA gene and have presumably spread within the genome by retroposition (reviewed in [1]). A particular group of Alu repeats appears to be human-specific (HS subfamily) and has expanded only recently within the human genome as indicated by distinct dimorphisms at various loci due to the presence or absence of an Alu repeat. In recent extensive studies, the frequency distributions of Alu insertions at selected loci in various human racial groups and populations were dete…
Identification de bactéries d’intérêt pour l’agriculture issues d’inoculants commerciaux
2014
Rapport de Stage de 1ère année de BTS EA MERS CT3; DEUG
Identification of Three-Way DNA Junction Ligands through Screening of Chemical Libraries and Validation by Complementary in Vitro Assays
2019
International audience; The human genome is replete with repetitive DNA sequences that can fold into thermodynamically stable secondary structures such as hairpins and quadruplexes. Cellular enzymes exist to cope with these structures whose stable accumulation would result in DNA damage through interference with DNA transactions such as transcription and replication. Therefore, the chemical stabilization of secondary DNA structures offers an attractive way to foster DNA transaction-associated damages to trigger cell death in proliferating cancer cells. While much emphasis has been recently given to DNA quadruplexes, we focused here on three-way DNA junctions (TWJ) and report on a strategy t…
Genome instability ofChironomus ripariusMg. andChironomus pigerStrenzke (Diptera, Chironomidae)
2007
Intra and interspecific variation was evaluated in two Bulgarian populations (Pancharevo and Koka- lijane) of the two sibling and homosequential species Chironomus riparius Mg. and Chironomus piger Strenzke, by analyzing structural and functional alterations in salivary gland polytene chromosomes. In both species genome in- stability was demonstrated, which was expressed by structural and functional somatic chromosomal alterations. In the C. riparius population from Pancharevo, living in sediments containing high concentrations of Cu, Pb and Zn, salivary gland cells containing somatic rearrangements appeared at a significantly higher frequency (51.92%) than in the Kokalijane C. piger popula…