High rate of recombination and double crossovers in the mouse pseudoautosomal region during male meiosis.

Soriano, Philippe; Keitges, Elisabeth A.; Schorderet, Daniel F.; Harbers, Klaus; Gartler, Stanley M.; Jaenisch, Rudolf

doi:10.1073/pnas.84.20.7218

Cited by 94 publications

(67 citation statements)

References 10 publications

(16 reference statements)

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“…The PAR is a small region of sequence homology between the X and Y chromosomes, which is restricted to the distal 700 kb of the X chromosome in house mice (Burgoyne 1982;Palmer et al 1997;Perry et al 2001). During each male meiosis, an obligate crossover in this small region helps ensure accurate pairing and segregation of the sex chromosomes (Keitges et al 1985;Rouyer et al 1986;Soriano et al 1987). Disruptions in pairing (Burgoyne et al 1992;Mohandas et al 1992) or reduced recombination (Shi et al 2001) can result in aneuploidies or complete meiotic arrest.…”

Section: Discussionmentioning

confidence: 99%

Genetics and Evolution of Hybrid Male Sterility in House Mice

White¹,

Stubbings

Dumont³

et al. 2012

Genetics

105

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Comparative genetic mapping provides insights into the evolution of the reproductive barriers that separate closely related species. This approach has been used to document the accumulation of reproductive incompatibilities over time, but has only been applied to a few taxa. House mice offer a powerful system to reconstruct the evolution of reproductive isolation between multiple subspecies pairs. However, studies of the primary reproductive barrier in house mice-hybrid male sterility-have been restricted to a single subspecies pair: Mus musculus musculus and Mus musculus domesticus. To provide a more complete characterization of reproductive isolation in house mice, we conducted an F 2 intercross between wild-derived inbred strains from Mus musculus castaneus and M. m. domesticus. We identified autosomal and X-linked QTL associated with a range of hybrid male sterility phenotypes, including testis weight, sperm density, and sperm morphology. The pseudoautosomal region (PAR) was strongly associated with hybrid sterility phenotypes when heterozygous. We compared QTL found in this cross with QTL identified in a previous F 2 intercross between M. m. musculus and M. m. domesticus and found three shared autosomal QTL. Most QTL were not shared, demonstrating that the genetic basis of hybrid male sterility largely differs between these closely related subspecies pairs. These results lay the groundwork for identifying genes responsible for the early stages of speciation in house mice.

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Section: Discussionmentioning

confidence: 99%

Genetics and Evolution of Hybrid Male Sterility in House Mice

White¹,

Stubbings

Dumont³

et al. 2012

Genetics

105

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“…PAR mediates proper sex chromosome pairing and segregation, and meiotic recombination between the sex chromosomes occurs in the PAR, which is therefore termed pseudoautosomal (11,12). Because the PAR of mouse is highly variable due to a high rate of recombination (13), the mouse Hiomt gene may have undergone rapid divergence. We present evidence that melatonin deficiency has a favorable impact on testis development of mice, suggesting some selection for defective alleles of the Hiomt in breeding colonies of fancy/laboratory mice.…”

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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“…This gene maps in the pseudoautosomal region of the sex chromosomes (Kasahara et al, 2010) and transcripts for a key enzyme involved in the endogenous production of melatonin (Coon et al, 2002). This is a highly polymorphic gene, even in inbred mice (Kasahara et al, 2010), and its remarkable mutability could be due to the high recombination rate holding in the pseudoautosomal region of the sex chromosomes (Soriano et al, 1987). Defective alleles impair the production of melatonin and have a favorable impact on testis development of mice, they being likely to support selection pressure rather than genetic drift during development of inbred strains of mice (Kasahara et al, 2010).…”

Section: Single-gene Mutationsmentioning

confidence: 99%

Inbred mouse strains and genetic stability: a review

Casellas

2011

Animal

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Inbred mice were essential animal models for scientific research during the 20th century and will contribute decisive results in the current and next centuries. Far from becoming an obsolete research tool, the generation of new inbred strains is continuing and such strains are being used in many research fields. However, their genetic properties have been overlooked for decades, although recent research has revealed new insights into their genetic fragility and relative instability. Contrary to what we usually assume, inbred mice are far from being completely isogenic and both single-gene major mutations and polygenic mutational variability are continuously uploading into inbred populations as new sources of genetic polymorphisms. Note that several inbred strains from new major mutations are released every year, whereas small mutations can accumulate up to accounting for a significant percentage of the phenotypic variance (e.g. 4.5% in a recent study on C57BL/6J mice). Moreover, this genetic heterogeneity can be maintained for several generations by heterozygote selection and, if fixed instead of dropping off, genetic drift must be anticipated. The contribution of accidental genetic contamination in inbred strains must also be considered, although its incidence in current breeding stocks should be minimal, or even negligible. This review revisits several relevant topics for current inbred strains, discussing the latest cutting-edge results within the context of the genetic homogeneity and stability of laboratory mice. Inbred mice can no longer be considered as completely isogenic, but provide a remarkably homogeneous animal model with an inevitable moderate-to-low degree of genetic variability. Despite a certain degree of genetic heterogeneity becoming inescapable, inbred mice still provide very useful animal models with evident advantages when compared with outbred, that is, highly variable, populations.Keywords: heterozygote selection, inbred strain, isogenicity, mouse, mutation Implications Inbred mice are basic tools for multiple research fields. Despite their relevance, their genetic architecture was overlooked for decades and recent research evidenced their genetic fragility, and even instability. Within this context, this review revisits several hot topics for current inbred strains, discussing the latest cutting-edge results on mutation and genetic drift, and characterizing other sources of genetic heterogeneity such as heterozygote selection or contamination. Far from invalidating the usefulness of inbred mice in research, this review was an attempt to describe the different sources of allogenicity and warns about potential consequences on the genetic stability of mice.

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High rate of recombination and double crossovers in the mouse pseudoautosomal region during male meiosis.

Cited by 94 publications

References 10 publications

Genetics and Evolution of Hybrid Male Sterility in House Mice

Genetics and Evolution of Hybrid Male Sterility in House Mice

Genetic variation of melatonin productivity in laboratory mice under domestication

Inbred mouse strains and genetic stability: a review

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