High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region

David Kipling; Eduardo C. Salido; Larry J. Shapiro; Howard J. Cooke

doi:10.1038/ng0596-78

High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region

David Kipling, Eduardo C. Salido, Larry J. Shapiro, Howard J. Cooke

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Abstract

The pseudoautosomal region (PAR) is a segment of shared homology between the X and Y chromosomes. Here we report physical linkage of three mouse PAR probes: DXYHgu1, DXYMov15 and (TTAGGG)(n). Steroid sulphatase (Sts) maps distal to these three probes, indicating that there is an internal array of the telomere sequence (TTAGGG)(n) in the PAR. Pseudoautosomal Pac1 restriction fragments, up to 2 Mb in size, are unstable in C57BL/6 x C57BL/6 crosses. New alleles, often several hundred kilobases different in size, occur at a sex-averaged rate of ~30% per allele. Such frequent large-scale germline genome rearrangements are without precedent in mammals.

Original language	English
Pages (from-to)	78-82
Number of pages	5
Journal	Nature Genetics
Volume	13
Issue number	1
DOIs	https://doi.org/10.1038/ng0596-78
State	Published - May 1 1996

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abstract = "The pseudoautosomal region (PAR) is a segment of shared homology between the X and Y chromosomes. Here we report physical linkage of three mouse PAR probes: DXYHgu1, DXYMov15 and (TTAGGG)(n). Steroid sulphatase (Sts) maps distal to these three probes, indicating that there is an internal array of the telomere sequence (TTAGGG)(n) in the PAR. Pseudoautosomal Pac1 restriction fragments, up to 2 Mb in size, are unstable in C57BL/6 x C57BL/6 crosses. New alleles, often several hundred kilobases different in size, occur at a sex-averaged rate of ~30% per allele. Such frequent large-scale germline genome rearrangements are without precedent in mammals.",

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AB - The pseudoautosomal region (PAR) is a segment of shared homology between the X and Y chromosomes. Here we report physical linkage of three mouse PAR probes: DXYHgu1, DXYMov15 and (TTAGGG)(n). Steroid sulphatase (Sts) maps distal to these three probes, indicating that there is an internal array of the telomere sequence (TTAGGG)(n) in the PAR. Pseudoautosomal Pac1 restriction fragments, up to 2 Mb in size, are unstable in C57BL/6 x C57BL/6 crosses. New alleles, often several hundred kilobases different in size, occur at a sex-averaged rate of ~30% per allele. Such frequent large-scale germline genome rearrangements are without precedent in mammals.

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High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region

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