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short tandem repeats

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https://www.readbyqxmd.com/read/27914278/fdstools-a-software-package-for-analysis-of-massively-parallel-sequencing-data-with-the-ability-to-recognise-and-correct-str-stutter-and-other-pcr-or-sequencing-noise
#1
Jerry Hoogenboom, Kristiaan J van der Gaag, Rick H de Leeuw, Titia Sijen, Peter de Knijff, Jeroen F J Laros
Massively parallel sequencing (MPS) is on the advent of a broad scale application in forensic research and casework. The improved capabilities to analyse evidentiary traces representing unbalanced mixtures is often mentioned as one of the major advantages of this technique. However, most of the available software packages that analyse forensic short tandem repeat (STR) sequencing data are not well suited for high throughput analysis of such mixed traces. The largest challenge is the presence of stutter artefacts in STR amplifications, which are not readily discerned from minor contributions...
November 27, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/27912743/str-realigner-a-realignment-method-for-short-tandem-repeat-regions
#2
Kaname Kojima, Yosuke Kawai, Kazuharu Misawa, Takahiro Mimori, Masao Nagasaki
BACKGROUND: In the estimation of repeat numbers in a short tandem repeat (STR) region from high-throughput sequencing data, two types of strategies are mainly taken: a strategy based on counting repeat patterns included in sequence reads spanning the region and a strategy based on estimating the difference between the actual insert size and the insert size inferred from paired-end reads. The quality of sequence alignment is crucial, especially in the former approaches although usual alignment methods have difficulty in STR regions due to insertions and deletions caused by the variations of repeat numbers...
December 3, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27910883/the-mechanism-of-transactivation-regulation-due-to-polymorphic-short-tandem-repeats-strs-using-igf1-promoter-as-a-model
#3
Holly Y Chen, Suk Ling Ma, Wei Huang, Lindan Ji, Vincent H K Leung, Honglin Jiang, Xiaoqiang Yao, Nelson L S Tang
Functional short tandem repeats (STR) are polymorphic in the population, and the number of repeats regulates the expression of nearby genes (known as expression STR, eSTR). STR in IGF1 promoter has been extensively studied for its association with IGF1 concentration in blood and various clinical traits and represents an important eSTR. We previously used an in-vitro luciferase reporter model to examine the interaction between STRs and SNPs in IGF1 promoter. Here, we further explored the mechanism how the number of repeats of the STR regulates gene transcription...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27909867/developmental-validation-of-the-homygene19-14y-system
#4
Weian Du, Ling Chen, Hong Liu, Pingming Qiu, Fayuan Li, Jing Gao, Yu Zhou, Bangchao Wang, Chao Liu
The HomyGene19+14Y System (HG19+14Y) is a PCR-based amplification kit that enables typing of 18 autosomal short tandem repeat (STR) loci (i.e., CSF1PO, D2S1338, D3S1358, D5S818, D6S1043, D7S820, D8S1179, D12S391, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, Penta E, TPOX, TH01, vWA), 14 widely used Y chromosome STR (Y-STR) loci (Y_GATA_H4, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS438, DYS439, DYS456, DYS458, DYS635), and amelogenin. This multiplex system was designed for the simultaneous analysis of amelogenin-Y allele mutation, single-source searches, kinship (including familial searching), mixture profiles, international data sharing, and other forensic applications...
December 1, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27907810/prediction-of-autosomal-str-typing-success-in-ancient-and-second-world-war-bone-samples
#5
Irena Zupanič Pajnič, Tomaž Zupanc, Jože Balažic, Živa Miriam Geršak, Oliver Stojković, Ivan Skadrić, Matija Črešnar
Human-specific quantitative PCR (qPCR) has been developed for forensic use in the last 10 years and is the preferred DNA quantification technique since it is very accurate, sensitive, objective, time-effective and automatable. The amount of information that can be gleaned from a single quantification reaction using commercially available quantification kits has increased from the quantity of nuclear DNA to the amount of male DNA, presence of inhibitors and, most recently, to the degree of DNA degradation. In skeletal remains samples from disaster victims, missing persons and war conflict victims, the DNA is usually degraded...
November 19, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/27905141/first-case-of-sterility-associated-with-sex-chromosomal-abnormalities-in-a-jenny
#6
J Dorado, G Anaya, M Bugno-Poniewierska, A Molina, A Mendez-Sanchez, I Ortiz, M Moreno-Millán, M Hidalgo, P Peral García, S Demyda-Peyrás
Chromosomal abnormalities are one of the main causes of genetic infertility in horses. Currently, their detection rate is rising due to the use of new diagnostic tools employing molecular markers linked to the sex chromosome pair. Despite genetic similarities, there are no previous reports of sterility associated with chromosomal abnormalities in the domestic donkey (Equus asinus). Hereby, we determined the presence of a chromosomal mosaicism in a female donkey with reproductive problems using molecular methodologies developed for horses...
December 1, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27900418/rapid-microfluidic-analysis-of-a-y-str-multiplex-for-screening-of-forensic-samples
#7
Georgiana Gibson-Daw, Patricia Albani, Marcus Gassmann, Bruce McCord
In this paper, we demonstrate a rapid analysis procedure for use with a small set of rapidly mutating Y chromosomal short tandem repeat (Y-STR) loci that combines both rapid polymerase chain reaction (PCR) and microfluidic separation elements. The procedure involves a high-speed polymerase and a rapid cycling protocol to permit PCR amplification in 16 min. The resultant amplified sample is next analysed using a short 1.8-cm microfluidic electrophoresis system that permits a four-locus Y-STR genotype to be produced in 80 s...
November 30, 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27893794/single-amino-acid-repeats-in-the-proteome-world-structural-functional-and-evolutionary-insights
#8
Amitha Sampath Kumar, Divya Tej Sowpati, Rakesh K Mishra
Microsatellites or simple sequence repeats (SSR) are abundant, highly diverse stretches of short DNA repeats present in all genomes. Tandem mono/tri/hexanucleotide repeats in the coding regions contribute to single amino acids repeats (SAARs) in the proteome. While SSRs in the coding region always result in amino acid repeats, a majority of SAARs arise due to a combination of various codons representing the same amino acid and not as a consequence of SSR events. Certain amino acids are abundant in repeat regions indicating a positive selection pressure behind the accumulation of SAARs...
2016: PloS One
https://www.readbyqxmd.com/read/27890109/ascorbic-acid-and-vitamin-c-containing-beverages-delay-the-leucomalachite-green-reaction-to-detect-latent-bloodstains
#9
Haeyong Lee, Myung Jin Park, Seol Hee Sun, Dong-Ho Choi, Yang-Han Lee, Ki-Won Park, Byung Won Chun
The leucomalachite green (LMG) test is one of catalytic tests for the detection of latent bloodstains and generally used in forensic field because of convenience and cost/time-effectiveness. However, contamination of latent bloodstains at crime scenes can interfere with the LMG reaction, resulting in false-negative or false-positive decisions. Herein, we examined if ascorbic acid and vitamin C (l-ascorbic acid or ascorbate)-containing beverages affect the LMG reaction. Ascorbic acid showed the inhibitory activities on the LMG reaction in a dose-dependent manner...
November 2016: Legal Medicine
https://www.readbyqxmd.com/read/27890097/forensic-genetic-study-of-29-y-strs-in-korean-population
#10
Ju Yeon Jung, Ji-Hye Park, Yu-Li Oh, Han-Sol Kwon, Hyun-Chul Park, Kyung-Hwa Park, Eun Hye Kim, Dong-Sub Lee, Si-Keun Lim
In this study, we compared two recently released commercial Y-chromosomal short tandem repeat (Y-STR) kits: the PowerPlex Y23 System (PPY23) and Yfiler® Plus PCR amplification kit (YPlus). We performed validation studies, including sensitivity, tolerance to PCR inhibitors, and mixture analysis, and a population genetics study using 306 unrelated South Korean males. PPY23 and YPlus showed similar sensitivity, but PPY23 showed higher tolerance to humic acid than YPlus. Furthermore, the detection rate of unique minor alleles called from male/male mixtures was higher for PPY23 than for YPlus...
November 2016: Legal Medicine
https://www.readbyqxmd.com/read/27881601/structural-basis-for-snrna-recognition-by-the-double-wd40-repeat-domain-of-gemin5
#11
Wenxing Jin, Yi Wang, Chao-Pei Liu, Na Yang, Mingliang Jin, Yao Cong, Mingzhu Wang, Rui-Ming Xu
Assembly of the spliceosomal small nuclear ribonucleoparticle (snRNP) core requires the participation of the multisubunit SMN (survival of motor neuron) complex, which contains SMN and several Gemin proteins. The SMN and Gemin2 subunits directly bind Sm proteins, and Gemin5 is required for snRNP biogenesis and has been implicated in snRNA recognition. The RNA sequence required for snRNP assembly includes the Sm site and an adjacent 3' stem-loop, but a precise understanding of Gemin5's RNA-binding specificity is lacking...
November 1, 2016: Genes & Development
https://www.readbyqxmd.com/read/27878371/characterization-of-globalfiler-loci-in-angolan-and-guinean-populations-inhabiting-southern-portugal
#12
Soraia Guerreiro, Teresa Ribeiro, Maria João Porto, Maria José Carneiro de Sousa, Paulo Dario
We analyzed the GlobalFiler short tandem repeat (STR) loci for 152 and 70 unrelated individuals from Angolan and Guinean immigrant populations inhabiting Southern Portugal, respectively. After Bonferroni correction, no significant deviations from the Hardy-Weinberg equilibrium and linkage disequilibrium were detected for either population. For the Angolan population, SE33 was the most informative marker. In contrast, D5S818 and D13S317 were the least informative loci. The combined power of discrimination was 99...
November 22, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27878141/assessing-the-5s-ribosomal-rna-heterogeneity-in-arabidopsis-thaliana-using-short-rna-next-generation-sequencing-data
#13
Maciej Szymanski, Wojciech M Karlowski
In eukaryotes, ribosomal 5S rRNAs are products of multigene families organized within clusters of tandemly repeated units. Accumulation of genomic data obtained from a variety of organisms demonstrated that the potential 5S rRNA coding sequences show a large number of variants, often incompatible with folding into a correct secondary structure. Here, we present results of an analysis of a large set of short RNA sequences generated by the next generation sequencing techniques, to address the problem of heterogeneity of the 5S rRNA transcripts in Arabidopsis and identification of potentially functional rRNA-derived fragments...
November 22, 2016: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/27866166/variability-in-a-short-tandem-repeat-mediates-complex-epistatic-interactions-in-arabidopsis-thaliana
#14
Maximilian Oliver Press, Christine Queitsch
Short tandem repeats are hypervariable genetic elements that occur frequently in coding regions. Their high mutation rate readily generates genetic variation contributing to adaptive evolution and human diseases. We previously reported that natural ELF3 polyglutamine variants cause reciprocal genetic incompatibilities in two divergent Arabidopsis thaliana backgrounds. Here, we dissect the genetic architecture of this incompatibility, revealing as many as four loci putatively interacting with ELF3 We were able to specifically identify one such ELF3-interacting gene, LSH9 We further used a yeast two-hybrid strategy to identify proteins whose physical interactions with ELF3 were affected by polyglutamine tract length...
November 18, 2016: Genetics
https://www.readbyqxmd.com/read/27853877/genetic-polymorphisms-of-20-autosomal-str-loci-in-the-vietnamese-population-from-yunnan-province-southwest-china
#15
Xiufeng Zhang, Liping Hu, Lei Du, Aiting Nie, Min Rao, Jing Bo Pang, Shengjie Nie
The genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 kit were evaluated in 522 healthy unrelated Vietnamese from Yunnan, China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. The combined discrimination power and probability of excluding paternity of the 20 STR loci were 0.999999999999999999999991 26 and 0.999999975, respectively. Results suggested that the 20 STR loci are highly polymorphic, which is suitable for forensic personal identification and paternity testing...
November 16, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27851802/str-profiling-for-discrimination-between-wild-and-domestic-swine-specimens-and-between-main-breeds-of-domestic-pigs-reared-in-belarus
#16
Krzysztof Rębała, Alina A Rabtsava, Svetlana A Kotova, Viachaslau N Kipen, Natalja V Zhurina, Alla I Gandzha, Iosif S Tsybovsky
A panel comprising 16 short tandem repeats (STRs) and a gender-specific amelogenin marker was worked out and tested for robustness in discrimination between wild and domestic swine subspecies encountered in Europe, between regional populations of wild boars and between main breeds of domestic pigs reared in Belarus. The STR dataset comprised 310 wild boars, inhabiting all administrative regions of Belarus, and 313 domestic pigs, representing three local and three cosmopolitan lines. Additionally, a total of 835 wild boars were genotyped for the presence of melanocortin 1 receptor (MC1R) alleles specific for domestic pigs...
2016: PloS One
https://www.readbyqxmd.com/read/27844419/incorrect-strain-information-for-mouse-cell-lines-sequential-influence-of-misidentification-on-sublines
#17
Kozue Uchio-Yamada, Fumio Kasai, Midori Ozawa, Arihiro Kohara
Misidentification or cross-contamination of cell lines can cause serious issues. Human cell lines have been authenticated by short tandem repeat profiling; however, mouse cell lines have not been adequately assessed. In this study, mouse cell lines registered with the JCRB cell bank were examined by simple sequence length polymorphism (SSLP) analysis to identify their strains. Based on comparisons with 7 major inbred strains, our results revealed their strains in 80 of 90 cell lines. However, 12 of the 80 cell lines (15%) were found to differ from registered information...
November 14, 2016: In Vitro Cellular & Developmental Biology. Animal
https://www.readbyqxmd.com/read/27829352/short-tandem-repeats-segmental-duplications-gene-deletion-and-genomic-instability-in-a-rapidly-diversified-immune-gene-family
#18
Matan Oren, Megan A Barela Hudgell, Brian D'Allura, Jacob Agronin, Alexandra Gross, Daniele Podini, L Courtney Smith
BACKGROUND: Genomic regions with repetitive sequences are considered unstable and prone to swift DNA diversification processes. A highly diverse immune gene family of the sea urchin (Strongylocentrotus purpuratus), called Sp185/333, is composed of clustered genes with similar sequence as well as several types of repeats ranging in size from short tandem repeats (STRs) to large segmental duplications. This repetitive structure may have been the basis for the incorrect assembly of this gene family in the sea urchin genome sequence...
November 9, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27829067/molecular-epidemiology-of-p-vivax-in-iran-high-diversity-and-complex-sub-structure-using-neutral-markers-but-no-evidence-of-y976f-mutation-at-pvmdr1
#19
Yaghoob Hamedi, Khojasteh Sharifi-Sarasiabi, Farzaneh Dehghan, Reza Safari, Sheren To, Irene Handayuni, Hidayat Trimarsanto, Ric N Price, Sarah Auburn
BACKGROUND: Malaria remains endemic at low levels in the south-eastern provinces of Iran bordering Afghanistan and Pakistan, with the majority of cases attributable to P. vivax. The national guidelines recommend chloroquine (CQ) as blood-stage treatment for uncomplicated P. vivax, but the large influx of imported cases enhances the risk of introducing CQ resistance (CQR). METHODOLOGY AND PRINCIPAL FINDINGS: The genetic diversity at pvmdr1, a putative modulator of CQR, and across nine putatively neutral short tandem repeat (STR) markers were assessed in P...
2016: PloS One
https://www.readbyqxmd.com/read/27826995/molecular-diversity-of-23-y-chromosome-short-tandem-repeat-loci-in-the-population-of-tuzla-canton-bosnia-and-herzegovina
#20
Naida Babić, Serkan Dogan, Jasmina Čakar, Amela Pilav, Damir Marjanović, Vesna Hadžiavdić
BACKGROUND: Tuzla Canton is the most populated region in the ethnically mixed territory of Bosnia and Herzegovina, whose genetic analysis could provide an insight into past demographic events. AIM: Analysis of 23 Y-chromosome STR markers in the population of Tuzla Canton and investigation of the genetic relationship of the male population of the Tuzla Canton and that of the larger Bosnian and Herzegovinian population as well as neighbouring and other European populations...
November 30, 2016: Annals of Human Biology
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