scholarly journals Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication

2021 ◽  
Vol 12 ◽  
Author(s):  
Francesco Ravasini ◽  
Eugenia D’Atanasio ◽  
Maria Bonito ◽  
Biancamaria Bonucci ◽  
Chiara Della Rocca ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Tandem Repeats ◽  
Forensic Genetics ◽  
Read Depth ◽  
Duplication Event ◽  
Forensic Analysis ◽  
Deletion Event ◽  
Monophyletic Cluster ◽  
Depth Analysis ◽  
Factor C

The azoospermia factor c region (AZFc), located in the long arm of the human Y chromosome, is frequently involved in chromosome rearrangements, mainly due to non-allelic homologous recombination events that occur between the nearly identical sequences (amplicon) that comprises it. These rearrangements may have major phenotypic effects like spermatogenic failure or other pathologies linked to male infertility. Moreover, they may also be relevant in forensic genetics, since some of the Y chromosome short tandem repeats (Y-STRs) commonly used in forensic analysis are located in amplicons or in inter-amplicon sequences of the AZFc. In a previous study, we identified four phylogenetically related samples with a null allele at DYS448 and a tetrallelic pattern at DYF387S1, two Y-STRs located in the AZFc. Through NGS read depth analysis, we found that the unusual Y-STR pattern may be due to a 1.6 Mb deletion arising concurrently or after a 3.5 Mb duplication event. The observed large genomic rearrangement results in copy number reduction for the RBMY gene family as well as duplication of other AZFc genes. Based on the diversity of 16 additional Y-STRs, we estimated that the duplication/deletion event occurred at least twenty generations ago, suggesting that it has not been affected by negative selection.

scholarly journals CSYseq: The first Y-chromosome sequencing tool typing a large number of Y-SNPs and Y-STRs to unravel worldwide human population genetics

PLoS Genetics ◽  
2021 ◽  
Vol 17 (9) ◽  
pp. e1009758
Author(s):  
Sofie Claerhout ◽  
Paulien Verstraete ◽  
Liesbeth Warnez ◽  
Simon Vanpaemel ◽  
Maarten Larmuseau ◽  
...  
Keyword(s):  
Population Genetics ◽  
Y Chromosome ◽  
Tandem Repeats ◽  
Forensic Genetics ◽  
Genetic Research ◽  
Background Information ◽  
Nucleotide Polymorphisms ◽  
Wide Range ◽  
Male Specific ◽  
Paired End Sequencing

Male-specific Y-chromosome (chrY) polymorphisms are interesting components of the DNA for population genetics. While single nucleotide polymorphisms (Y-SNPs) indicate distant evolutionary ancestry, short tandem repeats (Y-STRs) are able to identify close familial kinships. Detailed chrY analysis provides thus both biogeographical background information as paternal lineage identification. The rapid advancement of high-throughput massive parallel sequencing (MPS) technology in the past decade has revolutionized genetic research. Using MPS, single-base information of both Y-SNPs as Y-STRs can be analyzed in a single assay typing multiple samples at once. In this study, we present the first extensive chrY-specific targeted resequencing panel, the ‘CSYseq’, which simultaneously identifies slow mutating Y-SNPs as evolution markers and rapid mutating Y-STRs as patrilineage markers. The panel was validated by paired-end sequencing of 130 males, distributed over 65 deep-rooted pedigrees covering 1,279 generations. The CSYseq successfully targets 15,611 Y-SNPs including 9,014 phylogenetic informative Y-SNPs to identify 1,443 human evolutionary Y-subhaplogroup lineages worldwide. In addition, the CSYseq properly targets 202 Y-STRs, including 81 slow, 68 moderate, 27 fast and 26 rapid mutating Y-STRs to individualize close paternal relatives. The targeted chrY markers cover a high average number of reads (Y-SNP = 717, Y-STR = 150), easy interpretation, powerful discrimination capacity and chrY specificity. The CSYseq is interesting for research on different time scales: to identify evolutionary ancestry, to find distant family and to discriminate closely related males. Therefore, this panel serves as a unique tool valuable for a wide range of genetic-genealogical applications in interdisciplinary research within evolutionary, population, molecular, medical and forensic genetics.

DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

2001 ◽  
Vol 114 (6) ◽  
pp. 305-309 ◽  
Author(s):  
P. Gill ◽  
C. Brenner ◽  
B. Brinkmann ◽  
B. Budowle ◽  
A. Carracedo ◽  
...  
Keyword(s):  
Y Chromosome ◽  
International Society ◽  
Forensic Genetics ◽  
Forensic Analysis

DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

2001 ◽  
Vol 124 (1) ◽  
pp. 5-10 ◽  
Author(s):  
P. Gill ◽  
C. Brenner ◽  
B. Brinkmann ◽  
B. Budowle ◽  
A. Carracedo ◽  
...  
Keyword(s):  
Y Chromosome ◽  
International Society ◽  
Forensic Genetics ◽  
Forensic Analysis

Population Genetics of Y-Chromosome Short Tandem Repeats in Humans

1997 ◽  
Vol 45 (3) ◽  
pp. 265-270 ◽  
Author(s):  
Anna Pérez-Lezaun ◽  
Francesc Calafell ◽  
Mark Seielstad ◽  
Eva Mateu ◽  
David Comas ◽  
...  
Keyword(s):  
Population Genetics ◽  
Y Chromosome ◽  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Short Tandem

scholarly journals Sex-Specific Migration Patterns in Central Asian Populations, Revealed by Analysis of Y-Chromosome Short Tandem Repeats and mtDNA

1999 ◽  
Vol 65 (1) ◽  
pp. 208-219 ◽  
Author(s):  
Anna Pérez-Lezaun ◽  
Francesc Calafell ◽  
David Comas ◽  
Eva Mateu ◽  
Elena Bosch ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Migration Patterns ◽  
Asian Populations ◽  
Central Asian ◽  
Short Tandem

scholarly journals Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population

2006 ◽  
Vol 44 (3) ◽  
pp. 205-208 ◽  
Author(s):  
B. Arredi ◽  
A. Ferlin ◽  
E. Speltra ◽  
C. Bedin ◽  
D. Zuccarello ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Italian Population ◽  
Azoospermia Factor ◽  
Factor C

scholarly journals Comparison of the Allelic Alterations between InDel and STR Markers in Tumoral Tissues Used for Forensic Purposes

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 226
Author(s):  
Pamela Tozzo ◽  
Arianna Delicati ◽  
Anna Chiara Frigo ◽  
Luciana Caenazzo
Keyword(s):  
Colorectal Cancer ◽  
Genomic Instability ◽  
Tandem Repeats ◽  
Forensic Genetics ◽  
Tumor Type ◽  
Forensic Dna ◽  
Dna Identification ◽  
Human Dna ◽  
Tumor Transformation ◽  
Paternity Tests

Background and objectives: Over the last two decades, human DNA identification and kinship tests have been conducted mainly through the analysis of short tandem repeats (STRs). However, other types of markers, such as insertion/deletion polymorphisms (InDels), may be required when DNA is highly degraded. In forensic genetics, tumor samples may sometimes be used in some cases of human DNA identification and in paternity tests. Nevertheless, tumor genomic instability related to forensic DNA markers should be considered in forensic analyses since it can compromise genotype attribution. Therefore, it is useful to know what impact tumor transformation may have on the forensic interpretation of the results obtained from the analysis of these polymorphisms. Materials and Methods: The aim of this study was to investigate the genomic instability of InDels and STRs through the analysis of 55 markers in healthy tissue and tumor samples (hepatic, gastric, breast, and colorectal cancer) in 66 patients. The evaluation of genomic instability was performed comparing InDel and STR genotypes of tumor samples with those of their healthy counterparts. Results: With regard to STRs, colorectal cancer was found to be the tumor type affected by the highest number of mutations, whereas in the case of InDels the amount of genetic mutations turned out to be independent of the tumor type. However, the phenomena of genomic instability, such as loss of heterozygosity (LOH) and microsatellite instability (MSI), seem to affect InDels more than STRs hampering genotype attribution. Conclusion: We suggest that the use of STRs rather than InDels could be more suitable in forensic genotyping analyses given that InDels seem to be more affected than STRs by mutation events capable of compromising genotype attribution.

scholarly journals Pervasive cis effects of variation in copy number of large tandem repeats on local epigenetics and gene expression

2020 ◽  
Author(s):  
Paras Garg ◽  
Alejandro Martin-Trujillo ◽  
Oscar L. Rodriguez ◽  
Scott J. Gies ◽  
Bharati Jadhav ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dna Methylation ◽  
Copy Number ◽  
Large Scale ◽  
Tandem Repeats ◽  
Local Variation ◽  
Read Depth ◽  
Variable Number ◽  
Human Populations ◽  
Functional Variation

ABSTRACTVariable Number Tandem Repeats (VNTRs) are composed of large tandemly repeated motifs, many of which are highly polymorphic in copy number. However, due to their large size and repetitive nature, they remain poorly studied. To investigate the regulatory potential of VNTRs, we used read-depth data from Illumina whole genome sequencing to perform association analysis between copy number of ~70,000 VNTRs (motif size ≥10bp) with both gene expression (404 samples in 48 tissues) and DNA methylation (235 samples in peripheral blood), identifying thousands of VNTRs that are associated with local gene expression (eVNTRs) and DNA methylation levels (mVNTRs). Using large-scale replication analysis in an independent cohort we validated 73-80% of signals observed in the two discovery cohorts, providing robust evidence to support that these represent genuine associations. Further, conditional analysis indicated that many eVNTRs and mVNTRs act as QTLs independently of other local variation. We also observed strong enrichments of eVNTRs and mVNTRs for regulatory features such as enhancers and promoters. Using the Human Genome Diversity Panel, we defined sets of VNTRs that show highly divergent copy numbers among human populations, show that these are enriched for regulatory effects on gene expression and epigenetics, and preferentially associate with genes that have been linked with human phenotypes through GWAS. Our study provides strong evidence supporting functional variation at thousands of VNTRs, and defines candidate sets of VNTRs, copy number variation of which potentially plays a role in numerous human phenotypes.

scholarly journals GROM-RD: Resolving genomic biases to improve read depth detection of copy number variants

2014 ◽  
Author(s):  
Sean D Smith ◽  
Joseph K Kawash ◽  
Andrey Grigoriev
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Read Depth ◽  
Read Coverage ◽  
Novel Approach ◽  
Depth Analysis ◽  
Gc Bias ◽  
Next Generation Sequencing Ngs ◽  
Ngs Data ◽  
Cnv Detection

Amplifications or deletions of genome segments, known as copy number variants (CNVs), have been associated with many diseases. Read depth analysis of next-generation sequencing (NGS) is an essential method of detecting CNVs. However, genome read coverage is frequently distorted by various biases of NGS platforms, which reduce predictive capabilities of existing approaches. Additionally, the use of read depth tools has been somewhat hindered by imprecise breakpoint identification. We developed GROM-RD, an algorithm that analyzes multiple biases in read coverage to detect CNVs in NGS data. We found non-uniform variance across distinct GC regions after using existing GC bias correction methods and developed a novel approach to normalize such variance. Although complex and repetitive genome segments complicate CNV detection, GROM-RD adjusts for repeat bias and uses a two-pipeline masking approach to detect CNVs in complex and repetitive segments while improving sensitivity in less complicated regions. To overcome a typical weakness of RD methods, GROM-RD employs a CNV search using size-varying overlapping windows to improve breakpoint resolution. We compared our method to two widely used programs based on read depth methods, CNVnator and RDXplorer, and observed improved CNV detection and breakpoint accuracy for GROM-RD. GROM-RD is available at http://grigoriev.rutgers.edu/software/

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