Newinsights on the origin and relevance of aneuploidy in human spermatozoa
C. Templado, L. Uroz, A. Estop
In humans, the mostcommon chromosomal abnormality is aneuploidy. Because the majority of aneuploid conceptuses die during the early stages of embryonic development, an accurate estimate of the frequency of aneuploidy at conception can only be assessed by directly studying the gametes. The vast majority of aneuploidies arise de novo as a result of sporadic chromosome missegregation in paternal or maternal meiosis. In this review, we present the basic current knowledge about the incidence of aneuploidy in human spermatozoa in the general population and in patient populations where elevated levels of sperm aneuploidy are observed. These include infertile patients, patients with abnormal somatic karyotypes, and individuals exposed to certain environmental/lifestyle hazards. The clinical impact of increased levels of aneuploidy is discussed. We then focus on the non-disjunction mechanisms that cause aneuploidy during spermatogenesis and the factors that predispose to non-disjunction in male germ cells followed by an analysis of the sex differences in the incidence of gamete aneuploidy. Recent meiotic studies using multiplex-FISH on three fertile men have revealed that the frequency of conservative aneuploidy of metaphase II spermatocytes is similar to that observed in non-inseminated oocytes of young women. These findings suggest that the differences in the incidence of aneuploidy between spermatozoa and oocytes are not due to differences in chromosome segregation errors but rather to more effective checkpoint mechanisms in spermatogenesis than in oogenesis. © The Author 2013. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
gat039
Molecular Human Reproduction
https://doi.org/10.1093/molehr/gat039
Non-disjunction
Spermatozoa / FISH
10.1093/molehr/gat039
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Aneuploidy Medicine & Life Sciences
Germ Cells Medicine & Life Sciences
Spermatogenesis Medicine & Life Sciences
Oocytes Medicine & Life Sciences
Incidence Medicine & Life Sciences
Abnormal Karyotype Medicine & Life Sciences
Oogenesis Medicine & Life Sciences
Templado, C., Uroz, L., & Estop, A. (2013). Newinsights on the origin and relevance of aneuploidy in human spermatozoa. Molecular Human Reproduction, 19(10), 634-643. [gat039]. https://doi.org/10.1093/molehr/gat039
Templado, C. ; Uroz, L. ; Estop, A. / Newinsights on the origin and relevance of aneuploidy in human spermatozoa. In: Molecular Human Reproduction. 2013 ; Vol. 19, No. 10. pp. 634-643.
@article{3998a52d44fc45adb122c2865c0812a4,
title = "Newinsights on the origin and relevance of aneuploidy in human spermatozoa",
abstract = "In humans, the mostcommon chromosomal abnormality is aneuploidy. Because the majority of aneuploid conceptuses die during the early stages of embryonic development, an accurate estimate of the frequency of aneuploidy at conception can only be assessed by directly studying the gametes. The vast majority of aneuploidies arise de novo as a result of sporadic chromosome missegregation in paternal or maternal meiosis. In this review, we present the basic current knowledge about the incidence of aneuploidy in human spermatozoa in the general population and in patient populations where elevated levels of sperm aneuploidy are observed. These include infertile patients, patients with abnormal somatic karyotypes, and individuals exposed to certain environmental/lifestyle hazards. The clinical impact of increased levels of aneuploidy is discussed. We then focus on the non-disjunction mechanisms that cause aneuploidy during spermatogenesis and the factors that predispose to non-disjunction in male germ cells followed by an analysis of the sex differences in the incidence of gamete aneuploidy. Recent meiotic studies using multiplex-FISH on three fertile men have revealed that the frequency of conservative aneuploidy of metaphase II spermatocytes is similar to that observed in non-inseminated oocytes of young women. These findings suggest that the differences in the incidence of aneuploidy between spermatozoa and oocytes are not due to differences in chromosome segregation errors but rather to more effective checkpoint mechanisms in spermatogenesis than in oogenesis. {\textcopyright} The Author 2013. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.",
keywords = "Aneuploidy, Meiosis, Non-disjunction, Spermatozoa / FISH",
author = "C. Templado and L. Uroz and A. Estop",
doi = "10.1093/molehr/gat039",
journal = "Molecular Human Reproduction",
Templado, C, Uroz, L & Estop, A 2013, 'Newinsights on the origin and relevance of aneuploidy in human spermatozoa', Molecular Human Reproduction, vol. 19, no. 10, gat039, pp. 634-643. https://doi.org/10.1093/molehr/gat039
Newinsights on the origin and relevance of aneuploidy in human spermatozoa. / Templado, C.; Uroz, L.; Estop, A.
In: Molecular Human Reproduction, Vol. 19, No. 10, gat039, 01.10.2013, p. 634-643.
T1 - Newinsights on the origin and relevance of aneuploidy in human spermatozoa
AU - Templado, C.
AU - Uroz, L.
AU - Estop, A.
N2 - In humans, the mostcommon chromosomal abnormality is aneuploidy. Because the majority of aneuploid conceptuses die during the early stages of embryonic development, an accurate estimate of the frequency of aneuploidy at conception can only be assessed by directly studying the gametes. The vast majority of aneuploidies arise de novo as a result of sporadic chromosome missegregation in paternal or maternal meiosis. In this review, we present the basic current knowledge about the incidence of aneuploidy in human spermatozoa in the general population and in patient populations where elevated levels of sperm aneuploidy are observed. These include infertile patients, patients with abnormal somatic karyotypes, and individuals exposed to certain environmental/lifestyle hazards. The clinical impact of increased levels of aneuploidy is discussed. We then focus on the non-disjunction mechanisms that cause aneuploidy during spermatogenesis and the factors that predispose to non-disjunction in male germ cells followed by an analysis of the sex differences in the incidence of gamete aneuploidy. Recent meiotic studies using multiplex-FISH on three fertile men have revealed that the frequency of conservative aneuploidy of metaphase II spermatocytes is similar to that observed in non-inseminated oocytes of young women. These findings suggest that the differences in the incidence of aneuploidy between spermatozoa and oocytes are not due to differences in chromosome segregation errors but rather to more effective checkpoint mechanisms in spermatogenesis than in oogenesis. © The Author 2013. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
AB - In humans, the mostcommon chromosomal abnormality is aneuploidy. Because the majority of aneuploid conceptuses die during the early stages of embryonic development, an accurate estimate of the frequency of aneuploidy at conception can only be assessed by directly studying the gametes. The vast majority of aneuploidies arise de novo as a result of sporadic chromosome missegregation in paternal or maternal meiosis. In this review, we present the basic current knowledge about the incidence of aneuploidy in human spermatozoa in the general population and in patient populations where elevated levels of sperm aneuploidy are observed. These include infertile patients, patients with abnormal somatic karyotypes, and individuals exposed to certain environmental/lifestyle hazards. The clinical impact of increased levels of aneuploidy is discussed. We then focus on the non-disjunction mechanisms that cause aneuploidy during spermatogenesis and the factors that predispose to non-disjunction in male germ cells followed by an analysis of the sex differences in the incidence of gamete aneuploidy. Recent meiotic studies using multiplex-FISH on three fertile men have revealed that the frequency of conservative aneuploidy of metaphase II spermatocytes is similar to that observed in non-inseminated oocytes of young women. These findings suggest that the differences in the incidence of aneuploidy between spermatozoa and oocytes are not due to differences in chromosome segregation errors but rather to more effective checkpoint mechanisms in spermatogenesis than in oogenesis. © The Author 2013. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
KW - Aneuploidy
KW - Meiosis
KW - Non-disjunction
KW - Spermatozoa / FISH
U2 - 10.1093/molehr/gat039
DO - 10.1093/molehr/gat039
JO - Molecular Human Reproduction
JF - Molecular Human Reproduction
M1 - gat039
Templado C, Uroz L, Estop A. Newinsights on the origin and relevance of aneuploidy in human spermatozoa. Molecular Human Reproduction. 2013 Oct 1;19(10):634-643. gat039. https://doi.org/10.1093/molehr/gat039