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  • 1
    Electronic Resource
    Electronic Resource
    Sperm aging in the male and cytogenetic anomalies. An animal model (1982)
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 70-77 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Superovulated females, outbred ICR Swiss, were inseminated naturally with spermatozoa aged 6–20 days in the male genital tract by bilateral ligation of the corpus epididymis. Females inseminated by the males (also ICR Swiss) mating at 3-day intervals prior to ligation and those mated to sham-operated males served as controls. A total of 1167 fertilized one-cell zygotes of which 868 were at metaphase first cleavage were recovered 33–35 h post-HCG. First-cleavage divisions were analyzed in 631, or 72%, of all zygotes at metaphase and late prophase. The gametic origin of chromosome anomalies was determined on the basis of differential condensation of the chromosomes. The sex ratio of the zygotes was unaffected by aging sperm. In 321 zygotes from the controls the frequency of trisomy was 3.1%, monosomy 2.2%, triploidy 0.93%, and structural rearrangements 0.31%. Aging of sperm for 6 days did not significantly alter the number of heteroploid zygotes recovered. For the periods beyond day 6 and in the combined experimental series there was a highly significant increase in the number of all chromosome anomalies compared with controls. In the experimental zygotes, the incidence of trisomy was 9.7%, monosomy 7.4%, triploidy 3.9%, and structural anomalies 2.6%. There were also significant differences between control and experimental in the origin of the anomalies. The male genome was implicated significantly more often than the female in the origin of trisomies in the experimental series compared with the controls. It was also the direct source of all the structural anomalies and the majority of the triploids in the experimentals, where 8 of 9 were a result of diploid sperm. Therefore, the over-riding mechanism involved in the production of chromosomally anomalous offspring from aging sperm seems to be altered conditions of competition between chromosomally balanced and unbalanced sperm. Additionally, chromosomally normal sperm in an aging population may be affected in some aspects of their physiology so that they create preferential loss of maternally derived chromosomes leading to monosomy or nuclear fragmentation. The implications of these findings for the etiology of human chromosome anomalies are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295606
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  • 2
    Electronic Resource
    Electronic Resource
    Comparison of N banding and silver staining of human NORs (1980)
    Springer
    Human genetics 〈Berlin〉 54 (1980), S. 217-219 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A comparison of the sensitivity of silver and Giemsa N band staining for detection of the human nucleolar organizer regions (NORs) was carried out in cultured lymphocytes from three unrelated individuals. In sequentially stained cells examined from each subject, the mean number of Ag-NORs was greater than the mean number of N bands. The difference in stainability between the two techniques was shown to be highly significant (χ2 = 430.2; P〈0.01) when 100 cells pooled from all individuals were analyzed. These results suggest a greatly reduced sensitivity of the NOR for Giemsa, as opposed to silver. This conclusion is also supported by the finding that slides aged for over 1 week did not N band, while silver staining was accomplished on slides of any age. Several possible factors that might be responsible for the difference in staining response are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278976
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  • 3
    Electronic Resource
    Electronic Resource
    Support for random alignment of mitotic chromatids in associating nucleolus organizers (1982)
    Springer
    Human genetics 〈Berlin〉 61 (1982), S. 27-30 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Peripheral blood cultures of five healthy chromosomally normal adults were used to study the lateral orientation of mitotic chromatids in satellite associations. Chromosomes were prepared after bromodeoxyuridine substitution for two S phases and the fluorescence-plus-Giemsa (FPG) technique. Conventionally stained preparations were used to assess the polymorphisms of the acrocentrics in each individual. Satellite association pairs in which the acrocentrics were involved in a close, relatively straight end-to-end configuration were analyzed in cells with differentially stained sister chromatids. The number of concordant (light-light) and discordant (light-dark) chromatid alignments in associations varied from individual to individual. Chi square analysis revealed that four of the five subjects and the combined cell population from all subjects showed no deviation from the expected frequency of random alignment. The one subject with preferential nonrandom alignment had the widest range of polymorphisms and very long stalks involved in the majority of the associations, compared with the rest. We have obtained no evidence that as a general rule satellite associations are nonrandom with preferential orientation of dark-to-dark and light-to-light chromatids, although this may be the case in some individuals with very active NORs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291326
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  • 4
    Electronic Resource
    Electronic Resource
    The murine Rb(6.16) translocation: evidence for sperm selection and a modulating effect of aging (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 278-284 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The segregation products of the Rb(6.16) translocation were studied at first cleavage metaphase. Male mice heterozygous for the translocation mated at 3- and 14-day intervals to superovulated random-bred ICR females. Chromosome preparations of the recovered one-cell embryos were sequentially G- and C-banded and male and female complements analyzed cytogenetically. Of the 309 zygotes analyzed from both mating groups, no unbalanced segregants of the translocation were observed. In the 3-day group there was a highly significant difference (P〈0.001) from the expected 1:1 ratio between sperm with normal (70.5%) and balanced segregants (26.2%) of alternate segregation. In the 14-day group the level of significance for the difference was ten times lower (P〈0.01) as normal segregants were observed in 56.4% of the sperm and balanced ones in 36.5%. A comparison of the two groups using a 2×2 contingency table showed that segregant type was related to mating frequency (P〈0.05). There was a highly significant distortion (P〈0.01) of the sex ratio, with 178 Y-bearing and 131 X-bearing sperm in the combined populations. When sex ratio was analyzed according to mating intervals, the distortion was significant (P〈0.01) only for the 3-day group. An analysis of the sex ratio according to the segregant type showed no significant deviation from 1:1 for type 1 segregants, which had normal chromosomes, while type 2 segregants, with the translocation, had a deficiency of X-bearing sperm. This deficiency was significant (P〈0.05) only for the 3-day population. Analysis of meiotic preparations showed no association between the translocation trivalent and the X-Y bivalent. Our results, obtained under physiological conditions, provide definitive evidence for sperm selection and support previous findings that aging of sperm can modify the effect of selection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200904
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  • 5
    Electronic Resource
    Electronic Resource
    The murine Rb(6.16) translocation: alterations in the proportion of alternate sperm segregants effecting fertilization in vitro and in vivo (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 79-85 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The segregation products of the mouse Rb(6.16)24 Lub male translocation carrier were analyzed at first cleavage metaphase to determine whether the proportion of normal, balanced, and unbalanced sperm segregants differ in fertilizations occurring in vivo and in vitro. From 34 males, the sperm genomes in 268 firstcleavage mouse embryos were analyzed cytogenetically: 137 and 131 following in vivo and in vitro fertilization, respectively. Both systems demonstrated a preponderance of alternate (67.2% and 54.2%) as compared to adjacent segregation (10.2% and 13.7% as estimated). A contingency table showed that the distribution of reciprocal alternate segregants differed significantly between the two fertilization environments (x 2=20.64, P〈0.0005). Whereas chromosomally normal sperm were 3.6 times more likely than the balanced reciprocals to fertilize in vivo (78.3% normal:21.7% balanced), 1∶1 ratios were recovered following in vitro fertilization (43.7% normal: 56.3% balanced). The data also showed an excess of Y-bearing sperm with the translocation in both in vivo and in vitro fertilization groups. In the latter these segregants were 3 times more likely than X-bearing ones to effect fertilization. These data suggest a phenotypic disadvantage of translocation-X-bearing sperm, possibly mediated through altered haploid gene expression on chromosome 6 and gene expression on the Y. The results show clear evidence for prezygotic selection in vivo and indicate that the environment in which fertilization occurs significantly affects the transmission frequency of this specific translocation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210748
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  • 6
    Electronic Resource
    Electronic Resource
    In situ localization of murinec-Ki-ras-2 oncogene: Preliminary evidence for conservation of telomeric territory of oncogenes? (1988)
    Springer
    Somatic cell and molecular genetics 14 (1988), S. 205-210 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The use of a human cDNA probe and a Robertsonian translocation marker allowed us to localize the murinec-Ki-ras-2 oncogene to 6F-G at the telomere. Our finding provides support for the hypothesis that oncogenes have a preferred telomeric territory that is evolutionarily conserved. Given our physical mapping ofc-Ki-ras-2 to 6F-G, the role of this oncogene in the genesis and/or maintenance of granulocytic leukemias can now be explored by correlating the oncogenic site to that of the structural rearrangement of chromosome 6 seen in the tumors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01534405
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  • 7
    Electronic Resource
    Electronic Resource
    The Mouse Spam1 maps to proximal Chromosome 6 and is a candidate for the sperm dysfunction in Rb(6.16)24Lub and Rb(6.15)1Ald heterozygotes (1997)
    Springer
    Mammalian genome 8 (1997), S. 94 -97 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We have determined the chromosomal localization of the murine gene encoding the 68-kDa sperm adhesion molecule 1, Spam1 or Ph-20. Using two independent approaches, fluorescence in situ hybridization (FISH) and interspecific backcross analysis, we show that Spam1 maps to proximal mouse Chromosome (Chr) 6. This map position is within the conserved linkage group corresponding to human Chr 7q, where the human homolog, SPAM 1, has been shown to map previously. Genetic mapping shows the gene to be very closely linked to Met, one of the most proximal loci on MMU 6. It thus places the gene near the centromere and the junction of the Rb(6.16)24Lub and Rb(6.15)1Ald translocations. The essential role of the Spam1 sperm antigen in mouse sperm-egg interactions and its gene location provide strong support for its candidacy as the gene involved in the dysfunction of mouse sperm bearing the Rb(6.16)24Lub or Rb(6.15)1Ald translocation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003359900365
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  • 8
    Electronic Resource
    Electronic Resource
    Evidence for differential maturation of reciprocal sperm segregants in the murine RB(6.16) translocation heterozygote (1992)
    New York, NY [u.a.] : Wiley-Blackwell
    Molecular Reproduction and Development 32 (1992), S. 394-398 
    Details
    ISSN: 1040-452X
    Keywords: Sperm function ; Aging ; Chromosomal rearrangement ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The fertilizing ability of unaged sperm and those aged experimentally in the cauda by surgically ligating the corpus epididymis in males carrying the Rb(6.16) translocation was studied. Chromosomally normal females were inseminated with unaged sperm delivered by males mating at 3-day intervals, and aged sperm were studied after matings on 6-14 postoperative days. The sperm chromosome complement was analyzed in first-cleavage metaphase zygotes after sequential G- and C-banding of the chromosomes. Of 283 metaphasic zygotes in the control group, 183 (or 64.7%) were analyzed and showed a ratio of 2.7:1 for chromosomally normal and balanced segregants of the translocation, deviating significantly (P 〈 0.001) from the expected 1:1. The ratio of X- to Y-bearing sperm also deviated from expected (P 〉 0.01) mostly due to a significant deficiency (P 〉 0.05) of balanced sperm that were X-bearing. Fertilized oocytes were recovered from matings of 10 males on days 6-8 post-operatively, and, of 139 metaphasic one-cell zygotes, 101 (or 72.3%) were analyzed. These showed a Mendelian ratio of 1:1 for normal and balanced segregants. The sex ration in the aged group (57Y:41X) also showed no deviation from 1:1. The results, which reveal significant physiological distortions for both the segregation and the sex ratios in males heterozygous for the Rb(6.16) translocation, suggest that differential maturation of the translocation-bearing sperm and the chromosomally normal reciprocal exists. The findings further support the concept that sperm chromosomal complement affects their maturation and function, and that factors on chromosome 6 and the X or Y chromosome additively affect sperm function. © 1992 Wiley-Liss, Inc.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/mrd.1080320414
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  • 9
    Electronic Resource
    Electronic Resource
    Sperm aging in the male after sexual rest: Contribution to chromosome anomalies (1985)
    New York, NY : Wiley-Blackwell
    Gamete Research 12 (1985), S. 151-163 
    Details
    ISSN: 0148-7280
    Keywords: aging sperm ; mouse zygotes ; chromosome anomalies ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The chromosome complement was studied in first-cleavage metaphases of mouse zygotes resulting from sperm aged in the male physiologically, after sexual rest. Females were inseminated by control males mating at 3-day intervals while experimentals mated to males that had had a sexual rest of 14 or more days. A total of 1954 eggs were collected 33-35 h post-HCG from 101 superovulated females mated to 42 controls and 43 experimental males. The fertilization rate was similar in both groups, being 84% and 85%, respectively. G-banded or Q-banded chromosomes were analyzed in 301 (68.3%) controls and 392 (49%) experimental first-cleavage metaphases. The overall rate of chromosome anomalies in controls was 4.45% as compared to 10.94% in experimentals, a highly significant difference. In the experimental group compared to controls, the frequency of trisomy, triploidy, structural rearrangements, and tetraploidy increased from 3.9% to 6.9%, 0% to 1.6%, 0.8% to 2.8%, and 0% to 1.3%, respectively. The genomic source of origin of the abnormalities was determined on the basis of differential condensation of the genomes. In the experimentals, grossly unbalanced sperm (diploids, disomics, double disomics, and those with large fragments) fertilized significantly more oocytes compared to controls. Our results implicate an advantage either in numbers or fertilizing capability for chromosomally abnormal sperm in a physiologically aged population.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/mrd.1120120206
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  • 10
    Electronic Resource
    Electronic Resource
    Segregation products of male mice doubly heterozygous for the RB(6.16) and RB(16.17) translocations: Influence of sperm karyotype on fertilizing competence under varying mating frequencies (1989)
    New York, NY : Wiley-Blackwell
    Gamete Research 22 (1989), S. 93-107 
    Details
    ISSN: 0148-7280
    Keywords: aneuploid sperm ; one-celled zygotes ; sperm aging ; sperm selection ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The meiotic segregants of male mice heterozygous for Rb(6.16)24Lub and Rb(16.17)7Bnr were viewed, for the first time, at first cleavage metaphase. Chromosomes were analyzed after G-banding, C-banding, and karyotyping. To study sperm aging effects, chromosomes of 202 one-cell zygotes derived from males mating at intervals of approximately 3,14, and 21 days were examined. At least 89.6% of sperm-derived complements were products of 2:2 segregation; at most, a possible 6.4% were 3:1 segregants. The six expected types of 2:2 segregants, both balanced and unbalanced, were equifrequent in the total zygote population derived from sperm of all ages. When the data were analyzed according to mating frequency, the 3-day sperm population considered most likely to be fresh showed a deficiency of the segregant nullisomic for chromosome 6 and disomic for chromosome 17, when compared with the reciprocal segregant (P 〈 0.025) as well as to all other 2:2 segregants (P 〈 0.05). However, these sperm fertilized in greater numbers (P 〈 0.01) than their reciprocal segregant (disomic for 6 and nullisomic for 17) in the 14-day sperm population. While sperm with chromosomal abnormalities are capable of fertilization, the competence of segregants nullisomic for 6 and disomic for 17 apparently depends on the prior storage period in the male. Further, the results suggest that the effect of aneuploidy on sperm function is dependent on the specific chromosome(s) involved.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/mrd.1120220110
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