Y/autosomal translocations

Nielsen, Johannes; Rasmussen, Kirsten

doi:10.1111/j.1399-0004.1976.tb01621.x

Cited by 57 publications

(22 citation statements)

References 18 publications

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“…It was found that the length of the Yq12 heterochromatic region varied in length from 29%-54% on the metaphase Y chromosome. Interestingly, the Yq12 region has also been involved in a few reported translocations (Nielsen and Rasmussen 1976;Curtis 1977). Since there are occasional translocations on the Yq12 region, it can be inferred that they might contain sequences that might induce recombination events.…”

Section: The Tripartite Element On Chromosome Ymentioning

confidence: 99%

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

Babcock¹,

Yatsenko²,

Stankiewicz³

et al. 2007

Genome Res.

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Low copy repeats (LCRs; segmental duplications) constitute ∼5% of the sequenced human genome. Nonallelic homologous recombination events between LCRs during meiosis can lead to chromosomal rearrangements responsible for many genomic disorders. The 22q11.2 region is susceptible to recurrent and nonrecurrent deletions, duplications as well as translocations that are mediated by LCRs termed LCR22s. One particular DNA structural element, a palindromic AT-rich repeat (PATRR) present within LCR22-3a, is responsible for translocations. Similar AT-rich repeats are present within the two largest LCR22s, LCR22-2 and LCR22-4. We provide direct sequence evidence that the AT-rich repeats have altered LCR22 organization during primate evolution. The AT-rich repeats are surrounded by a subtype of human satellite I (HSAT I), and an AluSc element, forming a 2.4-kb tripartite structure. Besides 22q11.2, FISH and PCR mapping localized the tripartite repeat within heterochromatic, unsequenced regions of the genome, including the pericentromeric regions of the acrocentric chromosomes and the heterochromatic portion of Yq12 in humans. The repeat is also present on autosomes but not on chromosome Y in other hominoid species, suggesting that it has duplicated on Yq12 after speciation of humans from its common ancestor. This demonstrates that AT-rich repeats have shaped or altered the structure of the genome during evolution.[Supplemental material is available online at www.genome.org.]The human 22q11.2 region is susceptible to chromosome rearrangements leading to multiple congenital malformation disorders (for review, see McDermid and Morrow 2002). The most well recognized is velo-cardio-facial syndrome/DiGeorge syndrome (22q11.2 deletion syndrome, 22q11DS; MIM 192430; MIM 601,362) associated with a recurrent 3-Mb hemizygous deletion (Morrow et al. 1995;Carlson et al. 1997;Shaikh et al. 2000). A newly described developmental disorder occurs in individuals with a duplication of the same region that is deleted Ensenauer et al. 2003). The deletion and duplication result from nonallelic homologous recombination events between two 240-kb low copy repeats (LCRs) termed LCR22-2 and LCR22-4 ( Fig. 1; Babcock et al. 2003). Approximately 7% of 22q11DS patients have a nested distal deletion endpoint in a third LCR22, LCR22-3a, lying equidistant between LCR22-2 and LCR22-4 (Fig. 1). In addition to deletions and duplications, translocations also occur in 22q11.2, some within LCR22s. The constitutional t(11;22) translocation is the most common nonRobertsonian recurrent translocation in humans and the breakpoint on 22q11.2 is in LCR22-3a (Fraccaro et al. 1980;Zackai and Emanuel 1980;Funke et al. 1999). Another, more rare recurrent translocation, the t(17;22) translocation occurs in the same region as well (Kehrer-Sawatzki et al. 1997;Edelmann et al. 2001). In addition, other de novo translocations also occur on 22q11.2, several in the vicinity of LCR22s . The chromosome breakpoints on 22q11.2 for the recurrent translocations are in the center of an A...

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Section: The Tripartite Element On Chromosome Ymentioning

confidence: 99%

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

Babcock¹,

Yatsenko²,

Stankiewicz³

et al. 2007

Genome Res.

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“…Meiotic pairing analysis of 85 pachytene spreads showed the presence of an open structure corresponding to a quadrivalent formed by chromosomes 14, X, and the derivative chromosomes 14 and Y in 84.7% of the cases. In the remaining cases (15.3%), a 'tri- The prevalence of Y-autosome reciprocal translocations in the general human population is very low (1 in 2000) (Nielsen and Rasmussen, 1976;Powell, 1984). This kind of translocation has been observed in both fertile and sterile males (Delobel et al, 1998).…”

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confidence: 99%

Meiotic studies in an azoospermic boar carrying a Y;14 translocation

Pinton

Raymond‐Letron

Berland

et al. 2008

Cytogenet Genome Res

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A reciprocal translocation between the q arm of the Y chromosome and the q arm of chromosome 14 was identified in a young, phenotypically normal boar presenting azoospermia. Testicular biopsies were analyzed by classical histological and immunolocalization techniques, and by fluorescence in situ hybridization. Meiotic pairing analysis of 85 pachytene spreads showed the presence of an open structure corresponding to a quadrivalent formed by chromosomes 14, X, and the derivative chromosomes 14 and Y in 84.7% of the cases. In the remaining cases (15.3%), a ‘trivalent plus univalent’ configuration was observed. Immunolocalization of γH2AX revealed the presence of this modified histone in the chromatin domains of unsynapsed segments (centromeric region of chromosome 14) and spreading of the γH2AX signal from the XY body throughout chromosome 14 in 7.05% of the cells analyzed. The potential causes of the observed infertility, i.e. activation of meiotic checkpoints and/or silencing of genes necessary for the progression of meiosis, are discussed.

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“…In pigs, there are only 2 documented cases of an X-autosome reciprocal translocation as well as 2 cases of a Y-autosome reciprocal translocation [Gustavsson et al, 1989;Villagómez et al, 1991;Singh et al, 1994;Pinton et al, 2008;Barasc et al, 2012]. In humans, Y-autosome translocations are expected at a rate of 1/2,000, thus more than 100 cases are already documented [Nielsen and Rassmussen, 1976;Brisset, 2005]. Here, a carrier of a novel Y-autosome translocation identified during a systematic screening for chromosome abnormalities among 2,025 young unproven boars is reported .…”

Section: Discussionmentioning

confidence: 99%

Azoospermia and Testicular Hypoplasia in a Boar Carrier of a Novel Y-Autosome Translocation

Villagómez

Révay

Donaldson

et al. 2016

Sex Dev

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Few sex-autosome chromosome abnormalities have been documented in domestic animal species. In humans, Y-autosome chromosome abnormalities may occur at a rate of 1/2,000 live births, whereas in the domestic pig only 2 Y-autosome reciprocal translocations have been previously described. During a routine cytogenetic screening of young boars, we identified a new Y-autosome translocation carrier, which after puberty showed semen devoid of sperm and testicular hypoplasia with spermatogenesis arrest. Whole chromosome painting by FISH analysis corroborated the reciprocal nature of the chromosomal exchanges between the Y chromosome and SSC13. The possible causes for the observed meiotic arrest of the carrier are reviewed.

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Y/autosomal translocations

Abstract: We found six children with presumptive Y/autosomal translocation in a study of 11,148 liveborn children at the Arhus State Maternity Hospital, Denmark. The present study deals with the results of family investigation of the six children, who were found in five families.

Cited by 57 publications

References 18 publications

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

Meiotic studies in an azoospermic boar carrying a Y;14 translocation

Azoospermia and Testicular Hypoplasia in a Boar Carrier of a Novel Y-Autosome Translocation

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