Aneuploidy involving chromosome 1 in failed-fertilized human oocytes is unrelated to maternal age

Weier, Jingly F.; Nureddin, Aida; Pedersen, Roger A.; Racowsky, Catherine

doi:10.1007/s10815-005-5999-7

Cited by 3 publications

(3 citation statements)

References 44 publications

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“…In both instances, the fraction of aneuploid CTBs increases with gestational age, but does not appear to exert a detrimental effect on the organism. This is in contrast to reports of genomic variations in other organs such as the reproductive system, the human brain or in hematological disorders [44, 53-56], where an association between aneuploidy and disease could be established [54, 56-58]. While it seems that all human tissues are affected by somatic genomic variations [59], albeit to a greatly varying extent, aneuploidy might be missed when present in rare cells [57, 60, 61].…”

Section: Discussioncontrasting

confidence: 89%

Somatic Genomic Variations in Extra-Embryonic Tissues

Weier

Ferlatte²,

Weier³

2010

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In the mature chorion, one of the membranes that exist during pregnancy between the developing fetus and mother, human placental cells form highly specialized tissues composed of mesenchyme and floating or anchoring villi. Using fluorescence in situ hybridization, we found that human invasive cytotrophoblasts isolated from anchoring villi or the uterine wall had gained individual chromosomes; however, chromosome losses were detected infrequently. With chromosomes gained in what appeared to be a chromosome-specific manner, more than half of the invasive cytotrophoblasts in normal pregnancies were found to be hyperdiploid. Interestingly, the rates of hyperdiploid cells depended not only on gestational age, but were strongly associated with the extraembryonic compartment at the fetal-maternal interface from which they were isolated. Since hyperdiploid cells showed drastically reduced DNA replication as measured by bromodeoxyuridine incorporation, we conclude that aneuploidy is a part of the normal process of placentation potentially limiting the proliferative capabilities of invasive cytotrophoblasts. Thus, under the special circumstances of human reproduction, somatic genomic variations may exert a beneficial, anti-neoplastic effect on the organism.

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Section: Discussioncontrasting

confidence: 89%

Somatic Genomic Variations in Extra-Embryonic Tissues

Weier

Ferlatte²,

Weier³

2010

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“…In both instances, the fraction of aneuploid CTBs increases with gestational age, but does not appear to exert a detrimental effect on the organism. This is in contrast to reports of genomic variations in other organs such as the reproductive system, the human brain or in hematological disorders [44,[53][54][55][56], where an association between aneuploidy and disease could be established [54,[56][57][58]. While it seems that all human tissues are affected by somatic genomic variations [59], albeit to a greatly varying extent, aneuploidy might be missed when present in rare cells [60,61].…”

Section: Discussioncontrasting

confidence: 76%

Somatic genomic variations in extra-embryonic tissues

Weier¹,

Ferlatte²,

Weier³

2010

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Abstract:In the mature chorion, one of the membranes that exist during pregnancy between the developing fetus and mother, human placental cells form highly specialized tissues composed of mesenchyme and floating or anchoring villi. Using fluorescence in situ hybridization, we found that human invasive cytotrophoblasts isolated from anchoring villi or the uterine wall had gained individual chromosomes; however, chromosome losses were detected infrequently. With chromosomes gained in what appeared to be a chromosomespecific manner, more than half of the invasive cytotrophoblasts in normal pregnancies were found to be hyperdiploid. Interestingly, the rates of hyperdiploid cells depended not only on gestational age, but were strongly associated with the extraembryonic compartment at the fetal-maternal interface from which they were isolated. Since hyperdiploid cells showed drastically reduced DNA replication as measured by bromodeoxyuridine incorporation, we conclude that aneuploidy is a part of the normal process of placentation potentially limiting the proliferative capabilities of invasive cytotrophoblasts. Thus, under the special circumstances of human reproduction, somatic genomic variations may exert a beneficial, anti-neoplastic effect on the organism.

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“…The majority of aneuploidy is trisomy or additional sex chromosomes, inasmuch as loss of an autosome leads to intrauterine death at the earliest stages of prenatal development in contrast to loss of chromosomes X and Y [4, 50, 51]. Interestingly, trisomies of chromosomes, rarely involved in aneuploidy in fetuses and liveborn infants (adults), occur at the same rate in preimplantation embryos as mosaic trisomies of other chromosomes [52]. This suggests that mosaic aneuploidy does not possess appreciable effect on the earliest stage of embryonic development.…”

Section: Sgv and Chromosome Syndromesmentioning

confidence: 99%

Somatic Genome Variations in Health and Disease

Iourov

Sg²,

Yurov³

2010

100

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It is hard to imagine that all the cells of the human organism (about 1014) share identical genome. Moreover, the number of mitoses (about 1016) required for the organism’s development and maturation during ontogeny suggests that at least a proportion of them could be abnormal leading, thereby, to large-scale genomic alterations in somatic cells. Experimental data do demonstrate such genomic variations to exist and to be involved in human development and interindividual genetic variability in health and disease. However, since current genomic technologies are mainly based on methods, which analyze genomes from a large pool of cells, intercellular or somatic genome variations are significantly less appreciated in modern bioscience. Here, a review of somatic genome variations occurring at all levels of genome organization (i.e. DNA sequence, subchromosomal and chromosomal) in health and disease is presented. Looking through the available literature, it was possible to show that the somatic cell genome is extremely variable. Additionally, being mainly associated with chromosome or genome instability (most commonly manifesting as aneuploidy), somatic genome variations are involved in pathogenesis of numerous human diseases. The latter mainly concerns diseases of the brain (i.e. autism, schizophrenia, Alzheimer’s disease) and immune system (autoimmune diseases), chromosomal and some monogenic syndromes, cancers, infertility and prenatal mortality. Taking into account data on somatic genome variations and chromosome instability, it becomes possible to show that related processes can underlie non-malignant pathology such as (neuro)degeneration or other local tissue dysfunctions. Together, we suggest that detection and characterization of somatic genome behavior and variations can provide new opportunities for human genome research and genetics.

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Aneuploidy involving chromosome 1 in failed-fertilized human oocytes is unrelated to maternal age

Abstract: Aneuploidy involving chromosome 1 in failed-fertilized oocytes is unrelated to maternal age and occurs at a frequency similar to that for chromosomes 16, 18, and 21.

Cited by 3 publications

References 44 publications

Somatic Genomic Variations in Extra-Embryonic Tissues

Somatic Genomic Variations in Extra-Embryonic Tissues

Somatic genomic variations in extra-embryonic tissues

Somatic Genome Variations in Health and Disease

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