Chromosomal Causes for Fertility Reduction in Mammals

Boer, P. de

doi:10.1007/978-1-4613-2147-7_11

Cited by 36 publications

(38 citation statements)

References 87 publications

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“…The role of intrinsic factors, such as fertility, embryonic mortality, and developmental aberrations, has been studied much more thoroughly (Woodruff 1979;Barton and Hewitt 1985;Kocher and Sage 1986;Szymura and Barton 1986;King 1993). It is well documented that heterozygosity for chromosome rearrangements may lead to some infertility, mainly due to the production of unbalanced gametes (for reviews, see Gropp and Winking 1981;de Boer 1986;Searle 1993). Most of the data on fertility of karyotypic heterozygotes refer to Robertsonian translocations.…”

Section: Discussionmentioning

confidence: 99%

“…Because chromosomal heterozygosity can lead to reduced fecundity through the production of chromosomally unbalanced gametes (Gropp and Winking 1981;de Boer 1986;de Boer and de Jong 1989;Speed 1989;Searle 1993), we assessed the nondisjunction rate in heterozygous individuals. Secondary metaphases (metaphase II cells, MII) were scored for the number of chromosomes.…”

Section: Nondisjunction Ratementioning

confidence: 99%

“…However, very few studies of meiotic or other fitness-related consequences of chromosomal heterozygosity have been performed in natural hybrids. The level of nondisjunction in a single heterozygote is usually quite small and highly variable between individuals (Ford and Evans 1972;Gropp and Winking 1981;Searle 1986;Porter and Sites 1987;Wallace et al 1992), whereas heterozygotes for several rearrangements usually suffer dramatic fertility reductions due to extensive germ-cell death and high levels of nondisjunction (Gropp and Winking 1981;de Boer 1986;de Boer and de Jong 1989;Speed 1989;Searle 1993).…”

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confidence: 99%

“…Chromosomal rearrangements may pose a substantial genetic barrier because of reduced fertility of chromosomal heterozygotes (Gropp and Winking 1981;de Boer 1986;Searle 1993) and also because of suppression of crossing over in a rearranged chromosome (Futuyma and Mayer 1980). To evaluate the contribution of crossover suppression on reduction of gene flow between the two races, we examined the chiasmata in individuals from the Ashizu transect.…”

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STAGGERED CLINES IN A HYBRID ZONE BETWEEN TWO CHROMOSOME RACES OF THE HARVESTMANGAGRELLOPSIS NODULIFERA(ARACHNIDA: OPILIONES)

Gorlov

Tsurusaki

2000

Evolution

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Abstract. We analyzed a hybrid zone between two chromosome races (2n ϭ 16 and 2n ϭ 22) of a Japanese harvestman, Gagrellopsis nodulifera Sato and Suzuki (Arachnida: Opiliones: Phalangiidae). The hybrid zone is located in the eastern part of Tottori Prefecture, western Honshu. The width of the zone is approximately 5 to 15 km. Three independent tandem fusions/fissions seem to be the main cause of the karyotypic differences between the parental races. Ten karyotypic variants were found in the hybrid zone. They differed by numbers of diploid chromosomes and trivalents detected in meiosis. In most of the collecting sites, karyotypic heterozygotes were less common than expected. A positive correlation was found between number of trivalents in a karyotype and its deficiency rate. In some sites, the deficit of heterozygous individuals was accompanied by an excess of the intermediate homozygotes. One of the three transects across the zone was studied in detail. We found that three types of single heterozygotes (2n ϭ 17, 2n ϭ 19 and 2n ϭ 21) formed a series of successive, spatially separated peaks along the transect. Two types of intermediate homozygotes (2n ϭ 18 and 2n ϭ 20) were also spatially separated. The most parsimonious explanation of such a structure is the staggering of clines of three tandem (or Robertsonian) fusion/fission variants that differentiate the parental races caused by selection against multiple heterozygotes. Analysis of nondisjunction in single heterozygotes demonstrated that there was a strong interindividual variation in nondisjunction rate. The mean frequency of aneuploid MII in single heterozygotes was 0.10 Ϯ 0.03. Crossover exchanges in some critical regions of trivalents result in abnormal chromosomal configurations: chromosomes with unequal chromatids and dicentric chromosomes. Frequency of crossover-induced chromosomal abnormalities was low in single heterozygotes (Ӎ 4%), and was unexpectedly high in the double heterozygotes (Ӎ 15%). Selection against karyotypic heterozygotes is considered as a main evolutionary force responsible for the structuring of the hybrid zone. A positive association between diploid chromosome number and altitude was found. The race 2n ϭ 16 tended to occupy lower altitudes than the 2n ϭ 22 parental race. Differences in ecological preferences may be a result of previous adaptations to different environments in allopatry. A hypothesis concerning the origin and evolution of the hybrid zone is proposed.

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Section: Discussionmentioning

confidence: 99%

Section: Nondisjunction Ratementioning

confidence: 99%

mentioning

confidence: 99%

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STAGGERED CLINES IN A HYBRID ZONE BETWEEN TWO CHROMOSOME RACES OF THE HARVESTMANGAGRELLOPSIS NODULIFERA(ARACHNIDA: OPILIONES)

Gorlov

Tsurusaki

2000

Evolution

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“…There is substantial genotypic variability within the AE24 outbred line, which could lead to the independent assortment of secondary genetic elements affecting fertility. Expression of the sterile phenotype in male mice can be strictly dependent on genetic background, including sterility associated with the t complex, the hybrid sterility genes 1 and 2 , and specific autosomal chromosomal translocations (Forejt and Ivanyi 1975;Forejt 1976;Olds-Clarke and McCabe 1982;deBoer 1986;Olds-Clarke 1988).…”

Section: Incomplete Penetrance Of the Sterile Phenotypementioning

confidence: 99%

Inactivation of a sperm motility gene by insertion of an epidermal growth factor receptor transgene whose product is overexpressed and compartmentalized during spermatogenesis.

Merlino¹,

Stahle²,

Jhappan³

et al. 1991

Genes Dev.

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Transgenic mice were generated with a human epidermal growth factor (EGF) receptor cDNA driven by the chicken 13-actin gene promoter. One line (AE24) that exhibited a unique expression pattern in which dramatically elevated levels of EGF receptor RNA were found only in the testis was established, suggesting that the 13-actin promoter was being influenced by an adjacent testis-specific enhancer. EGF receptor RNA was detected in primary spermatocytes, whereas the synthesis of receptor protein was restricted to elongate spermatids, indicating that transgene expression was under translational control. At spermiation, the EGF receptor was sequestered in residual bodies and excluded from mature sperm by a compartmentalization mechanism. About half of AE24 homozygous males were sterile because of sperm paralysis, whereas heterozygous males and females of either genotype were completely fertile. Electron microscopic analysis of sperm flagella from sterile AE24 homozygotes revealed an aberrant axonemal structure in which outer doublet microtubules were missing from the middle piece, resembling changes observed in the sperm of some infertile humans. Flagellar axonemal disassembly was observed in the vas deferens and epididymis but not in the testis, suggesting that outer doublets were assembled in a grossly normal manner but possessed a latent instability. These results demonstrate that in the AE24 mouse line the EGF receptor transgene was integrated into and inactivated an endogenous autosomal gene, causing sperm flagellar axonemal disruption and male sterility.

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The murine Spam1 gene: RNA expression pattern and lower steady-state levels associated with the Rb(6.16) translocation

Ying

Martin‐DeLeon

1997

Mol. Reprod. Dev.

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Chromosomal Causes for Fertility Reduction in Mammals

Cited by 36 publications

References 87 publications

STAGGERED CLINES IN A HYBRID ZONE BETWEEN TWO CHROMOSOME RACES OF THE HARVESTMANGAGRELLOPSIS NODULIFERA(ARACHNIDA: OPILIONES)

STAGGERED CLINES IN A HYBRID ZONE BETWEEN TWO CHROMOSOME RACES OF THE HARVESTMANGAGRELLOPSIS NODULIFERA(ARACHNIDA: OPILIONES)

Inactivation of a sperm motility gene by insertion of an epidermal growth factor receptor transgene whose product is overexpressed and compartmentalized during spermatogenesis.

The murine Spam1 gene: RNA expression pattern and lower steady-state levels associated with the Rb(6.16) translocation

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