Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

Lange, Julian; Skaletsky, Helen; Daalen, Saskia K.M. van; Embry, Stephanie L.; Korver, Cindy M.; Brown, Laura G.; Oates, Robert D.; Silber, Sherman J.; Repping, Sjoerd; Page, David C.

doi:10.1016/j.cell.2009.07.042

Cited by 236 publications

(287 citation statements)

References 52 publications

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“…. The long arm of chromosome Y is enriched with palindromes that were shown to mediate recombination between arms of sister chromatids to generate the idic (Yp), explaining their higher prevalence as compared to idic (Yq) [9]. Our case is unique given the non-mosaic feature.…”

Section: Case Reportmentioning

confidence: 82%

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan

Chen

et al. 2013

J Assist Reprod Genet

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The dicentric Y chromosomes are the most commonly found in the structural aberration of Y chromosome. If the dicentric chromosome has completely symmetric arms, it is considered an isodicentric chromosome. The sites of breakage and fusion at Yp and Yq are variable, but breakage and fusion at the pseudo-autosomal region has never been reported. Herein we reported identification de novo isodicentric (Yq12) in a fetus. The fusion occurred at Yq pseudo-autosomal region very close the telomere and resulted in duplication of Y chromosome. The baby was grossly normal at birth. In conclusion, isodicentric Y chromosome could result from breakage and fusion at the Yq pseudo-autosomal region.

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Section: Case Reportmentioning

confidence: 82%

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan

Chen

et al. 2013

J Assist Reprod Genet

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“…1). The same PCR conditions were performed for primers sY1227 and sY1228 specific to spacer to arm boundaries on palindrome P5 and sY579 specific for spacer on palindromes P1 and P2 [28,34].…”

Section: Semen Analysismentioning

confidence: 99%

“…Briefly, two polymerase chain reactions were done for each DNA sample in parallel. One [28]. b Expanded view of AZFs regions.…”

Section: Genotyping Of the Y-snp M3 (Dys199 Locus)mentioning

confidence: 99%

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

Lardone

Marengo

Parada-Bustamante

et al. 2013

J Assist Reprod Genet

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Purpose To determine the prevalence of South Amerindian Y chromosome in Chilean patients with spermatogenic failure and their association with classical and/or AZFc-partial Y chromosome deletions. Methods We studied 400 men, 218 with secretory azo/oligozoospermia (cases) and 182 controls (116 fertile and/or normozoospermic, and 66 azoospermic with normal spermatogenesis). After a complete testicular characterization (physical evaluation, hormonal and/or biopsy) peripheral blood was drawn to obtain DNA for Y chromosome microdeletions, AZFc-partial deletions and biallelic analysis by allele specific polymerase chain reaction (PCR) of the M3 (rs3894) single nucleotide polymorphism (SNP). Results Classical AZF microdeletions were found in 23 cases (Y-microdeleted). AZFc-partial deletions were observed in 10 cases (6 "gr/gr", 3 "b2/b3" and 1 "b1/b3") and 4 controls (4 "gr/gr"). The AZFc-partial deletions were mainly associated with the absence of DAZ1/DAZ2 (64 %). No significant differences in the prevalence of AZFc-partial deletions were observed between cases and controls. We observed a significant higher proportion of the Q1a3a haplogroup in Y-microdeleted men compared to patients with spermatogenic failure without deletions and control men (P<0.01 and P<0.05, respectively by Bonferroni test). Among them, patients with AZFb deletions had an increased prevalence of the Q1a3a haplogroup compared to controls, cases without deletions and to those with complete or partial-AZFc deletions (P<0.01, Bonferroni test). Conclusions The Q1a3a South Amerindian lineage seems to increase the susceptibility to non AZFc microdeletions. On the other hand, in Chilean population the AZFc-partial deletions ("gr/gr", "b1/b3" and/or "b2/b3") does not seem to predispose to severe spermatogenic impairment.

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“…The crossover takes place within one of the eight long palindromic DNA sequences in the long arm, each sharing 499% sequence identity. 4 Thus, current methods for wholegenome paired-end sequencing would probably miss the breakpoint because of the repetitive nature of the surrounding DNA sequences. The position of the exchange defines the axis of symmetry within the idic(Y), and also the extent of loss of genes on the long arm that are required for spermatogenesis.…”

Section: Sirmentioning

confidence: 99%

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

et al. 2016

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Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

Cited by 236 publications

References 52 publications

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

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