Illegitimate pairing of the X and Y chromosomes in <i>Sxr</i> mice

Cattanach, B.M.; Rasberry, C.; Burtenshaw, M. D.; Evans, E. P.

doi:10.1017/s0016672300035199

Cited by 17 publications

(13 citation statements)

References 14 publications

(29 reference statements)

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“…There was also one exceptional individual, a hemizygous Ta male, which proved on later analysis to be XSxr/O and so had not inherited a maternal X. Among the total progeny a divergence from a 1:1 ratio of pseudoautosomal recombinant X/X females relative to nonrecombinant X/XSxr males (170:262) was evident, as in previous studies (9,10), although this was somewhat less extreme (1:1.5, as opposed to 1:4 in ref. 10), perhaps reflecting the different origin of the Y chromosome.…”

Section: Resultssupporting

confidence: 78%

“…Analysis of Mbo I-digested RT-PCR products amplified using Sry primers showed that musculus-type transcripts were present in both XYYd' and XYYd2 testes (Fig. Sc) Yp-Sxr recombination in XSxr/Y males has been postulated to explain the unexpectedly low frequency of pseudoautosomal recombinants among their offspring (9). In the present study, 7 Yp-Sxr recombinants out of 192 offspring were retrieved, giving a frequency of 4%.…”

Section: Resultssupporting

confidence: 48%

“…Cytogenetic studies on such XSxr/Y males have indicated that, in addition to normal pseudoautosomal pairing, Yp-Sxr pairing and exchange occurs. Occasionally this homologous pairing appeared asymmetrical (9).…”

mentioning

confidence: 98%

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Y chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal.

Laval

Glenister

Rasberry

et al. 1995

Proc. Natl. Acad. Sci. U.S.A.

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We earlier described three lines of sexreversed XY female mice deleted for sequences believed close to the testes-determining gene (Sry) The mouse mutation sex reversed (Sxr) arose through a duplication of the Y chromosome short arm (Yp), including the sex-determining gene Sry and transposition to the pseudoautosomal region at the end of the Y long arm (1-3). In addition to Sry, Sxr contains all of the Y chromosome genes necessary for spermatogenesis up to the round spermatid stage (4) and all other known Yp genes including Zfyl, Zfy2, Ubelyl, and Smcy (5). Pseudoautosomal crossing-over in carrier (X/ YSxr) males transfers Sxr to the X chromosome, causing sex reversal of the X/XSxr progeny (6).Normally Sxr is transmitted only through X/YSxr males, as X/XSxr males are sterile. However, a nonrandom X-inactivation pattern can be brought about in X/XSxr animals using the T16H translocation [T(X;16)16H]. In some X(T16H)/XSxr individuals the Sxr region is inactivated with the result that female development occurs (7,8 10403The publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.

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Section: Resultssupporting

confidence: 78%

Section: Resultssupporting

confidence: 48%

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Y chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal.

Laval

Glenister

Rasberry

et al. 1995

Proc. Natl. Acad. Sci. U.S.A.

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“…1990). The composition of the dicentric chromatids in XSv' Y individuals indicated that the recombination event occurred within the dis tal region of both sex chromosomes, and thus Cattanach et al (1990) attributed the dicentric chromatids to either crossover error between parasynapsed pseudoautosomal regions or re combination between pseudoautosomal regions that were paired in an inverted fashion. The data from XY* males are consistent with inverted pairing and recombination, as the composition of the dicentric chromatids observed in three metaphase II pairs suggests that recombination occurs within X-Y* bivalents in which the centromeric end of the Y* chromo some is parasynapsed with the distal end of the X chromosome (Fig.…”

Section: Discussionmentioning

confidence: 99%

Synapsis and obligate recombination between the sex chromosomes of male laboratory mice carrying the Y* rearrangement

Hale

Hunt

Tucker

et al. 1991

Cytogenet Genome Res

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The synaptic and recombinational behavior of the sex chromosomes in male laboratory mice carrying the Y* rearrangement was analyzed by light and electron microscopy. Examination of zygotene and pachytene X-Y* configurations revealed a surprising paucity of the staggered pairing configuration predicted from the distal position of the X pseudoautosomal region and the subcentromeric position of the Y* pseudoautosomal region. When paired at pachynema, the X and Y* chromosomes usually assumed configurations similar to those of typical sex bivalents from normal male laboratory mice. The X and Y* chromosomes were present as univalents in more than half of the early- and mid-pachytene nuclei, presumably as a result of steric difficulties associated with homologous alignment of the pseudoautosomal regions. When paired at diakinesis and metaphase I, the X and Y* chromosomes exhibited an asymmetrical chiasmatic association indicative of recombination within the staggered synaptic configuration. Both pairing disruption and recombinational failure apparently contribute to diakinesis/metaphase I sex-chromosome univalency, as most cells at these stages possessed X and Y* univalents lacking evidence of prior recombination. Recombinant X or Y* chromosomes were detected in all metaphase II complements examined, thus substantiating the hypothesis that X-Y recombination is a prerequisite for the normal progression of male meiosis.

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“…Evans et al (37) extended this hypothesis to suggest that a recombinational event between the X and Y chromosomes is a prerequisite for successful completion of male meiosis. Although the obligate recombination hypothesis is supported by data obtained from studies involving males carrying the Y* (12,39) or Sxr mutations (37,(40)(41)(42), this hypothesis needs to be critically tested with male mice carrying normal sex chromosomes.…”

Section: 5mentioning

confidence: 99%

Telomere-related markers for the pseudoautosomal region of the mouse genome.

Eicher¹,

Lee²,

Washburn³

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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The pseudoautosomal (PA) region of the mammalian genome is the region of the X and Y chromosomes that shares extensive DNA sequence homology and is of special interest because it may play an essential role during male meiosis. We have identified three telomere-related restriction fragments from the PA region of the mouse genome, using an oligonucleotide probe composed of the mammalian telomere consensus sequence TTAGGG. PA assignment of two C57BL/6J-derived fragments was initially suggested by analysis of DNAs from progeny sired by C57BL/6J males carrying the rearranged Y chromosome, Y*: the hybridization intensity of both fragments was concordant with the sex-chromosome complement of the offspring. Further analysis indicated that both fragments were present in female and male F1 mice regardless of the sex oftheir C57BL/6J parent-a criterion for autosomal or PA linkage. Both fragments were closely linked to each other and located on the X chromosome distal to amelogenin (Amg)-in agreement with X or PA linkage. Confirmation of the PA derivation of these fragments was accomplished by following their segregation in a cross involving XY* males mated to DBA/2J females. A similar experiment identified a third PA-derived restriction fragment of LT/SvEi origin. Identification of PA-derived telomere-related restriction fragments will enable further genetic analysis ofthis region of the mouse genome.In 1967, Ohno (1) suggested that the mammalian X and Y chromosomes are derived from a pair of homologous chromosomes, an extension of an hypothesis proposed by Muller (2) for the origin of the sex chromosomes of Drosophila. If this is true, then numerous rearrangements, additions, and deletions must have occurred in the ancestral chromosome that evolved into the mammalian Y chromosome, as the Y chromosome now differs significantly from its putative evolutionary homologue, the X chromosome. However, one area of extensive homology still exists between the mammalian X and Y chromosomes. This shared segment is commonly referred to as the pseudoautosomal (PA) region because PA-derived loci are inherited in a manner characteristic of autosomal loci as a result of obligate crossing over between the X and Y chromosomes during male meiosis (3). In humans the PA region is located at the distal end of the short arms of the X and Y chromosomes, whereas in mice this region is located at the distal end ofthe long arms ofthe X and Y chromosomes (3,4).Although a number of DNA sequences and loci have been mapped to the PA region of the human genome (e.g., ref. 5), to our knowledge only three loci have been mapped to the PA region of the laboratory mouse genome: steroid sulfatase

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Illegitimate pairing of the X and Y chromosomes in Sxr mice

Cited by 17 publications

References 14 publications

Y chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal.

Y chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal.

Synapsis and obligate recombination between the sex chromosomes of male laboratory mice carrying the Y* rearrangement

Telomere-related markers for the pseudoautosomal region of the mouse genome.

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