Journal Article10.1159/000488162
Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias.
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TL;DR: It is suggested that idic(Y) can originate in postzygotic cells via palindrome-mediated crossovers and can trigger mLOY, which usually appears as an aging-related phenomenon in elderly men.
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Abstract: 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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Citations
Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes
Julian Lange,Helen Skaletsky,Saskia K.M. van Daalen,Stephanie L. Embry,Cindy M. Korver,Laura G. Brown,Robert D. Oates,Sherman J. Silber,Sjoerd Repping,David C. Page +9 more
- 01 Sep 2009
TL;DR: It is proposed that intrapalindrome sequence identity is maintained via noncrossover pathways of homologous recombination, exposing an Achilles' heel in the mechanism that preserves palindrome-borne genes.
172
Mosaic loss of human Y chromosome: what, how and why
TL;DR: The micronucleation hypothesis and centromere-dysfunction and telomere-attrition models are proposed to explain how mosaic LOY occurs and why ChrY is prone to lose and it is believed an improved understanding of mosaic LOy will open new pathways to modify and increase healthy aging in males.
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Losing maleness: Somatic Y chromosome loss at every stage of a man's life.
Mami Miyado,Maki Fukami +1 more
- 02 Apr 2019
TL;DR: It is proposed that mosaic LOY can present in men at any age, and appears to be associated with disorders of sex development and Turner syndrome at birth, short stature from childhood, and spermatogenic failure at reproductive age, in addition to shortened survival after 60 years of age.
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Novel insights in Turner syndrome
Jasmine Aly,Paul Kruszka +1 more
TL;DR: Turner syndrome is the most common sex chromosome abnormality in female individuals, affecting 1/2000–1/2500 female newborns, and developments in the genetic basis of disease are materializing at a rapid pace.
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45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report.
Yasuhiro Kawabe,Mihoko Yamaguchi,Satoshi Miyagaki,Takeshi Ota,Hidechika Morimoto,Atsushi Hattori,Maki Fukami,Jun Mori +7 more
TL;DR: The case of 15-yr-old phenotypically normal male with short stature associated with the chromosomal abnormalities of 46,X,psu idic(Y)(q11.2)/45,X might provide new insights regarding GCY and emphasizes the importance of chromosome analysis in not only females but also males withShort stature, especially when associated with genital anomalies.
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TL;DR: Mitotic homologous recombination promotes genome stability through the precise repair of DNA double-strand breaks and other lesions that are encountered during normal cellular metabolism and from exogenous insults.
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer
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TL;DR: The impact of post-zygotic mosaicism on disease risk is illustrated, could explain why males are more frequently affected by cancer and suggest that chromosome Y is important in processes beyond sex determination.
Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes
Julian Lange,Helen Skaletsky,Saskia K.M. van Daalen,Stephanie L. Embry,Cindy M. Korver,Laura G. Brown,Robert D. Oates,Sherman J. Silber,Sjoerd Repping,David C. Page +9 more
- 01 Sep 2009
TL;DR: It is proposed that intrapalindrome sequence identity is maintained via noncrossover pathways of homologous recombination, exposing an Achilles' heel in the mechanism that preserves palindrome-borne genes.
172
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients
Masafumi Kon,E. Suzuki,V.C. Dung,Y. Hasegawa,Takahiko Mitsui,K. Muroya,Katsuhiko Ueoka,N. Igarashi,Keisuke Nagasaki,Yuji Oto,Takashi Hamajima,K. Yoshino,Maki Igarashi,Yuko Kato-Fukui,Kazuhiko Nakabayashi,K. Hayashi,Kenichirou Hata,Yoichi Matsubara,Kimihiko Moriya,Tsutomu Ogata,Katsuya Nonomura,Maki Fukami +21 more
TL;DR: The data provide evidence that pathogenic mutations can underlie both mild and severe hypos padias and that HSD3B2 mutations cause non-syndromic hypospadias as a sole clinical manifestation.
Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.
Kazuki Saito,Mami Miyado,Yoshitomo Kobori,Yoko Tanaka,Hiromichi Ishikawa,Atsumi Yoshida,Momori Katsumi,Hidekazu Saito,Toshiro Kubota,Hiroshi Okada,Tsutomu Ogata,Maki Fukami +11 more
TL;DR: The results imply that AZF-linked CNVs are more frequent and heterogeneous than previously reported and confirm the functional neutrality of the gr/gr deletion in the Japanese population.