The Hows and Ys of Genome Integrity

Hall, Heather E.; Hawley, R. Scott

doi:10.1016/j.cell.2009.08.022

Cited by 3 publications

(4 citation statements)

References 10 publications

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“…Figure 2 shows a hypothetical mechanism for the development of the 45,X/ 46,X,idic(Y)/46,XY karyotype in our case: (i) the original karyotype of the zygote was 46,XY, (ii) idic(Y) was formed in a postzygotic cell through aberrant recombination between P1 palindromes, and (iii) the rearranged Y chromosome was subjected to mosaic loss during subsequent mitotic divisions to create the 45,X cell line. Thus, unlike most other idic(Y) cases which are ascribable to aberrant recombination during meiosis [Hall and Hawley, 2009;Lange et al, 2009], our case likely results from palindrome-mediated recombination in somatic cells. Indeed, previous studies have shown that chromosomal recombination can occur in human cells during mitosis, albeit to a much lesser extent than during meiosis [Moynahan and Jasin, 2010].…”

Section: Discussionmentioning

confidence: 89%

“…Individuals with idic(Y) frequently exhibit a mosaic 46,X,idic(Y)/45,X karyotype, indicating genetic instability of idic(Y) [Beaulieu Bergeron et al, 2011]. In fact, the 2 centromeres of idic(Y) can attach to different spindle poles to be pulled apart during mitosis [Hall and Hawley, 2009], and such missegregated chromosomes tend to be subjected to micronucleus-mediated degradation [Hall and Hawley, 2009;Jones et al, 2012]. In contrast, a mosaic 46,XY/46,X,idic(Y) karyotype has been described only in few cases.…”

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confidence: 99%

“…Idic(Y) often causes disorders of sexual development (DSD) and infertility due to deletion or dysregulation of some genes in the Y chromosome [Hall and Hawley, 2009;Lange et al, 2009]. Idic(Y) primarily results from aberrant meiotic recombination between Y-specific palindromes on sister chromatids [Hall and Hawley, 2009;Lange et al, 2009]. Individuals with idic(Y) frequently exhibit a mosaic 46,X,idic(Y)/45,X karyotype, indicating genetic instability of idic(Y) [Beaulieu Bergeron et al, 2011].…”

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confidence: 99%

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Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias

Miyado

Muroya

Katsumi

et al. 2018

Cytogenet Genome Res

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Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]/46,X,idic(Y)[7]/46,XY[8] karyotype. MLPA showed a mosaic deletion involving PPP1R12BP1 and RBMY2DP. The idic(Y) was likely to have been formed through aberrant recombination between P1 palindromes and subsequently underwent mosaic loss. The patient's phenotype was attributable to deletion of some Y chromosomal genes and/or mosaic loss of chromosome Y (mLOY). The results suggest that idic(Y) can originate in postzygotic cells via palindrome-mediated crossovers. Moreover, our data indicate that somatically acquired idic(Y) can trigger mLOY, which usually appears as an aging-related phenomenon in elderly men.

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Section: Discussionmentioning

confidence: 89%

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confidence: 99%

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confidence: 99%

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Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias

Miyado

Muroya

Katsumi

et al. 2018

Cytogenet Genome Res

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“…Centromeric activity at the dicentric situation is responsible for chromosomal stability. If each of the centromeres remains active, the dicentric Y chromosome may be broken apart during chromosome segregation, leading to its dam age or loss (10). Conversely, if a dicentric chromosome has one active centromere, segregation of the chromosome is free of meiotic problems (11).…”

Section: Discussionmentioning

confidence: 99%

Mosaic Isodicentric Y Chromosome in a Patient with Mixed Gonadal Dysgenesis

Yılmaz¹,

Yüksel²,

Özer³

et al. 2015

Erciyes Med J

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Here, we report a male with mixed gonadal dysgenesis and a mosaic karyotype, 45,X[49]/47,X,idic(Y) (qll.2)x2[4]/46,X,idic(Y) (qll.2)[47J. We used fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to determine the structural rearrangement and genetic content of the Y chromosome. Our findings emphasize the importance of the use of a combination of cytogenetic and molecular genetics techniques during characterization of a patient with a derivative Y chromosome before any general conclusions can be reached concerning the relative effects of the Y chromosome abnormality and mosaicism on sexual differentiation.

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Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development

Uehara

Hattori

Shima³

et al. 2019

Cytogenet Genome Res

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Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y;autosome translocations can occur between 2 low-similarity sequences, probably via nonhomologous end joining. Furthermore, translocations of a Ypterq11.21 fragment to 7q35 likely result in normal or only mildly impaired male-type sexual development, along with various clinical features of 7q deletion syndrome, although their effects on adult testicular function remain to be studied.

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The Hows and Ys of Genome Integrity

Cited by 3 publications

References 10 publications

Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias

Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias

Mosaic Isodicentric Y Chromosome in a Patient with Mixed Gonadal Dysgenesis

Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development

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