X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele

Keitges, Elisabeth A.; Rivest, Martha; Siniscalco, M.; Gartler, Stanley M.

doi:10.1038/315226a0

Cited by 143 publications

(42 citation statements)

References 31 publications

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“…EVANS et al (10) demonstrated that male determining genes, translocated to the tip of the long arm of the Y chromosome, were transferred to the X chromosome by means of an obligate crossover resulting in sex reversal in the progeny. KE1TGES et al (21) have likewise demonstrated that a mouse steroid sulphatase variant appears to be present distal to the site for an obligate crossover between the sex chromosomes. In contrast, all other genetic and structural markers on the X chromosome including distal markers in the long arm are X-linked showing that the obligate crossover is close to the telomere of the X and Y chromosomes (10).…”

Section: Chromosome Pairing and Crossing Overmentioning

confidence: 95%

Crossing over in the male mouse as analysed by recombination nodules and bars

Glamann

1986

Carlsberg Res. Commun.

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The present study of 26 serially sectioned mouse spermatocyte nuclei has permitted the following observations and conclusions: l) The pachytene stage can be subdivided into an early, a mid, and a late substage. 2) A morphological change of the early spheric recombination nodule to an elongated bar is observed.3) The number of recombination structures per nucleusdecreases from a mean of 31 nodules and 2 bars at early pachytene to a mean of 8 nodules and 6 bars at mid pachytene. The number of nodules and bars remains virtually constant at late pachytene and early diplotene. 4) The number of bivalents with one and two nodules is higher than would be expected if the nodules were distributed at random. 5) Along the bivalents the frequency of nodules and bars exhibits a characteristic pattern of troughs and peaks. 6) The presence of a nodule/bar distally in the synaptonemal complex segment combining the X and the Y chromosomes strongly indicates the existence of an obligatory crossover between the terminal parts of the long arm of the X and Y chromosomes.

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Section: Chromosome Pairing and Crossing Overmentioning

confidence: 95%

Crossing over in the male mouse as analysed by recombination nodules and bars

Glamann

1986

Carlsberg Res. Commun.

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“…ANT3 mapped separately on another wallaby autosome, so it may represent a region added independently to the eutherian PAR or a region that has been rearranged in marsupials [61]. The mouse sex chromosomes have a 2 Mb PAR region, but contain only one active gene, Sts [62,63]. One other gene, Fxy, spans the pseudoautosomal boundary on the mouse X and has a truncated partner at the boundary of the Y PAR [64,65].…”

Section: Origin Of Human Par1 and Par2mentioning

confidence: 99%

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

Mangs¹,

Morris

2007

197

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Abstract:The pseudoautosomal regions (PAR1 and PAR2) of the human X and Y chromosomes pair and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex-linked fashion. PAR1 is located at the terminal region of the short arms and PAR2 at the tips of the long arms of these chromosomes. To date, 24 genes have been assigned to the PAR1 region. Half of these have a known function. In contrast, so far only 4 genes have been discovered in the PAR2 region. Deletion of the PAR1 region results in failure of pairing and male sterility. The gene SHOX (short stature homeobox-containing) resides in PAR1. SHOX haploinsufficiency contributes to certain features in Turner syndrome as well as the characteristics of Leri-Weill dyschondrosteosis. Only two of the human PAR1 genes have mouse homologues. These do not, however, reside in the mouse PAR1 region but are autosomal. The PAR regions seem to be relics of differential additions, losses, rearrangements and degradation of the X and Y chromosome in different mammalian lineages. Marsupials have three homologues of human PAR1 genes in their autosomes, although, in contrast to mouse, do not have a PAR region at all. The disappearance of PAR from other species seems likely and this region will only be rescued by the addition of genes to both X and Y, as has occurred already in lemmings. The present review summarizes the current understanding of the evolution of PAR and provides up-to-date information about individual genes residing in this region. THE X AND Y CHROMOSOMESThe human sex chromosomes (X and Y) originate from an ancestral homologous chromosome pair, which during mammalian evolution lost homology due to progressive degradation of the Y chromosome [1]. The X-chromosome in placental mammals represents approximately 5% of the haploid genome and the gene content is almost completely conserved amongst species. To ensure dosage compensation, most genes on the X are subject to X inactivation in females. The Y chromosome is much smaller than the X, being only 2-3% of the haploid genome, and is largely composed of repeated sequences. Most genes on the Y have relatives on the X chromosome and these are not subject to X inactivation. The degeneration of the Y chromosome has been researched and reviewed extensively [2][3][4][5][6]. THE PSEUDOAUTOSOMAL REGIONSThe pseudoautosomal regions (PAR1 and PAR2) are short regions of homology between the mammalian X and Y chromosomes. The PAR behave like an autosome and recombine during meiosis. Thus genes in this region are inherited in an autosomal rather than a strictly sex-linked fashion.PAR1 comprises 2.6 Mb of the short-arm tips of both X and Y chromosomes in humans and other great apes [7,8] and is required for pairing of the X and Y chromosomes during male meiosis. All characterized genes within PAR1 escape X inactivation. X-Y pairing in the PAR is thought to serve a critical function in spermatogenesis, at least in humans and mouse [9][10][11]. PAR2 is located at the tips of the long arms and is a much shor...

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“…Sts (steroid sulfatase; U37545) is the only gene that has been known to be located in the mouse PAR (21,22), whereas it has not mapped on the reference genome sequence (Build 37). We confirmed that the BAC clone contained the Sts gene.…”

mentioning

confidence: 99%

Genetic variation of melatonin productivity in laboratory mice under domestication

Kasahara

Abe²,

Mekada

et al. 2010

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

171

161

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Melatonin is a pineal hormone produced at night; however, many strains of laboratory mice are deficient in melatonin. Strangely enough, the gene encoding HIOMT enzyme (also known as ASMT) that catalyzes the last step of melatonin synthesis is still unidentified in the house mouse (Mus musculus) despite the completion of the genome sequence. Here we report the identification of the mouse Hiomt gene, which was mapped to the pseudoautosomal region (PAR) of sex chromosomes. The gene was highly polymorphic, and nonsynonymous SNPs were found in melatonin-deficient strains. In C57BL/6 strain, there are two mutations, both of which markedly reduce protein expression. Mutability of the Hiomt likely due to a high recombination rate in the PAR could be the genomic basis for the high prevalence of melatonin deficiency. To understand the physiologic basis, we examined a wild-derived strain, MSM/Ms, which produced melatonin more under a short-day condition than a long-day condition, accompanied by increased Hiomt expression. We generated F2 intercrosses between MSM/ Ms and C57BL/6 strains and N2 backcrosses to investigate the role of melatonin productivity on the physiology of mice. Although there was no apparent effect of melatonin productivity on the circadian behaviors, testis development was significantly promoted in melatonin-deficient mice. Exogenous melatonin also had the antigonadal action in mice of a melatonin-deficient strain. These findings suggest a favorable impact of melatonin deficiency due to Hiomt mutations on domestic mice in breeding colonies.

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X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele

Cited by 143 publications

References 31 publications

Crossing over in the male mouse as analysed by recombination nodules and bars

Crossing over in the male mouse as analysed by recombination nodules and bars

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

Genetic variation of melatonin productivity in laboratory mice under domestication

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