Constitutional Duplication of a Region of Chromosome Yp Encoding AMELY, PRKY, and TBL1Y

Murphy, Kathleen M.; Cohen, Julie S.; Goodrich, Amy; Long, Patricia P.; Griffin, Constance A.

doi:10.2353/jmoldx.2007.060198

Cited by 23 publications

(10 citation statements)

References 25 publications

(20 reference statements)

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“…Since duplication and deletion of the AMELY/TBL1Y (Santos et al 1998 ; Murphy et al 2007 ), TSPY (Oakey and Tyler-Smith 1990 ; Mathias et al 1994 ; Repping et al 2006 ) and the Yq region containing the CDY, BPY2 and DAZ genes (Jobling et al 1996 ; Repping et al 2003 , 2004 , 2006 ; Fernandes et al 2004 ) have been extensively documented in the literature, and can have subtle biological consequences (Repping et al 2003 ; Machev et al 2004 ; Giachini et al 2009 ), we focus here on the remaining UTY , RBMY and PRY genes.…”

Section: Resultsmentioning

confidence: 99%

“…Two minisatellites (Jobling et al 1998 ; Bao et al 2000 ), abundant microsatellites (Kayser et al 2004 ) and some retroposon insertions (Hammer 1994 ; Santos et al 2000 ) have been reported. Molecular studies surveying the copy number of Y-specific loci similarly discovered general population duplications and deletions of segments of the chromosome that could be hundreds of kilobases or megabases in size (Jobling et al 1996 ; Santos et al 1998 ; Saxena et al 2000 ; Bosch and Jobling 2003 ; Fernandes et al 2004 ; Repping et al 2004 ; Murphy et al 2007 ; Balaresque et al 2008 , 2009 ). Rare pathological CNVs have also been identified, including cytogenetically visible deletions associated with spermatogenetic failure (Tiepolo and Zuffardi 1976 ) and anomalies of sex determination (Disteche et al 1986 ) and three distinct cytogenetically undetectable deletions leading to spermatogenetic failure (Vogt et al 1996 ), as well as insertions causing hearing impairment (Wang et al 2013 ).…”

Section: Introductionmentioning

confidence: 99%

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Copy number variation in the human Y chromosome in the UK population

et al. 2015

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We have assessed copy number variation (CNV) in the male-specific part of the human Y chromosome discovered by array comparative genomic hybridization (array-CGH) in 411 apparently healthy UK males, and validated the findings using SNP genotype intensity data available for 149 of them. After manual curation taking account of the complex duplicated structure of Y-chromosomal sequences, we discovered 22 curated CNV events considered validated or likely, mean 0.93 (range 0–4) per individual. 16 of these were novel. Curated CNV events ranged in size from <1 kb to >3 Mb, and in frequency from 1/411 to 107/411. Of the 24 protein-coding genes or gene families tested, nine showed CNV. These included a large duplication encompassing the AMELY and TBL1Y genes that probably has no phenotypic effect, partial deletions of the TSPY cluster and AZFc region that may influence spermatogenesis, and other variants with unknown functional implications, including abundant variation in the number of RBMY genes and/or pseudogenes, and a novel complex duplication of two segments overlapping the AZFa region and including the 3′ end of the UTY gene.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-015-1562-5) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Copy number variation in the human Y chromosome in the UK population

et al. 2015

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“…The Y chromosome bears a rich complement of ampliconic repeats [16], and these are known to sponsor many recurrent rearrangements, including examples at AZFa [14, 45], AZFb [46], AZFc [26, 42, 47-49] and Amelogenin Y [13, 15]. However, this does not mean that every rearrangement is driven by these NAHR processes.…”

Section: Discussionmentioning

confidence: 99%

“…Variability involving DYS19 can be seen against a background of the generally high degree of structural variability of the Y chromosome. Cytogenetic and molecular studies have demonstrated that many large-scale structural variants exist, including deletions [11-13], duplications [11, 12, 14, 15], and inversions [12]. Underlying this structural polymorphism is a high rate of mutation through non-allelic homologous recombination (NAHR) between very similar paralogous sequences, which are particularly frequent on the Y [16].…”

Section: Introductionmentioning

confidence: 99%

Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications

et al. 2008

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The Y-STR DYS19 is firmly established in the repertoire of Y-chromosomal markers used in forensic analysis yet is poorly understood at the molecular level, lying in a complex genomic environment and exhibiting null alleles, as well as duplications and occasional triplications in population samples. Here, we analyse three null alleles and 51 duplications and show that DYS19 can also be involved in inversion events, so that even its location within the short arm of the Y chromosome is uncertain. Deletion mapping in the three chromosomes carrying null alleles shows that their deletions are less than approximately 300 kb in size. Haplotypic analysis with binary markers shows that they belong to three different haplogroups and so represent independent events. In contrast, a collection of 51 DYS19 duplication chromosomes belong to only four haplogroups: two are singletons and may represent somatic mutation in lymphoblastoid cell lines, but two, in haplogroups G and C3c, represent founder lineages that have spread widely in Central Europe/West Asia and East Asia, respectively. Consideration of candidate mechanisms underlying both deletions and duplications provides no evidence for the involvement of non-allelic homologous recombination, and they are likely to represent sporadic events with low mutation rates. Understanding the basis and population distribution of these DYS19 alleles will aid in the utilisation and interpretation of profiles that contain them.

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“…The PRKY gene is located approximately 0.35 Mb centromeric to AMELY . To differentiate PRKX and PRKY , we designed a PCR reaction to amplify exon 8 of the PRKX and PRKY genes, using a primer set that spans a three-base pair deletion ( Table 1 ) [ 14 ]. The PRKY amplification product is three bases shorter than the PRKX product.…”

Section: Methodsmentioning

confidence: 99%

Lack of a Y-Chromosomal Complement in the Majority of Gestational Trophoblastic Neoplasms

Yap

Hafez

Mao

et al. 2010

Journal of Oncology

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Gestational trophoblastic neoplasms (GTNs) are a rare group of neoplastic diseases composed of choriocarcinomas, placental site trophoblastic tumors (PSTTs) and epithelioid trophoblastic tumors (ETTs). Since these tumors are derivatives of fetal trophoblastic tissue, approximately 50% of GTN cases are expected to originate from a male conceptus and carry a Y-chromosomal complement according to a balanced sex ratio. To investigate this hypothesis, we carried out a comprehensive analysis by genotyping a relatively large sample size of 51 GTN cases using three independent sex chromosome genetic markers; Amelogenin, Protein Kinase and Zinc Finger have X and Y homologues that are distinguishable by their PCR product size. We found that all cases contained the X-chromosomal complement while only five (10%) of 51 tumors harbored the Y-chromosomal complement. Specifically, Y-chromosomal signals were detected in one (5%) of 19 choriocarcinomas, one (7%) of 15 PSTTs and three (18%) of 17 ETTs. The histopathological features of those with a Y-chromosome were similar to those without. Our results demonstrate the presence of a Y-chromosomal complement in GTNs, albeit a low 10% of cases. This shortfall of Y-chromosomal complements in GTNs may reinforce the notion that the majority of GTNs are derived from previous molar gestations.

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Constitutional Duplication of a Region of Chromosome Yp Encoding AMELY, PRKY, and TBL1Y

Cited by 23 publications

References 25 publications

Copy number variation in the human Y chromosome in the UK population

Copy number variation in the human Y chromosome in the UK population

Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications

Lack of a Y-Chromosomal Complement in the Majority of Gestational Trophoblastic Neoplasms

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