Evaluation of the Role of Uniparental Disomy in Early Embryolethality of Man

Nikitina, Tatiana; Саженова, Е. А.; Суханова, Н. Н.; Лебедев, И. Н.; Nazarenko, S. A.

doi:10.1023/b:rudo.0000036715.98103.fc

Cited by 7 publications

(3 citation statements)

References 49 publications

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“…Indeed, PraderWilli and Angelman syndromes are well-known as results of upd(15)mat and upd (15)pat, respectively. At the same time, there is no evidence from the literature or our previous studies for any selective disadvantage of upd(15) in human embryo development [Nikitina et al, 2004]. The proband's mother was not analysed for structural abnormalities of chromosome 9, while the proband had low-level mosaicism for der(9).…”

Section: Discussionmentioning

confidence: 88%

A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

Čulić¹,

Lasan-Trčić²,

Liehr

et al. 2018

Cytogenet Genome Res

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We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.

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Section: Discussionmentioning

confidence: 88%

A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

Čulić¹,

Lasan-Trčić²,

Liehr

et al. 2018

Cytogenet Genome Res

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“…According to prelimi nary estimates, the incidence of epimutations may, by one or two orders, exceed the mean incidence of gene mutations [5]. The first line of work, which explored the mechanisms underlying the disturbance of the imprinted gene dose in the pathology of embryogene sis, analyzed the phenomenon of uniparental disomy (UPD) of chromosomes [6][7][8][9]. However, the research failed to show that the incidence of fetal deaths with UPD of the chromosomes with imprinted genes not exceeds 1%.…”

Section: Introductionmentioning

confidence: 99%

Multilocus epimutations of imprintome in the pathology of human embryo development

et al. 2012

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Genomic imprinting is one of the key epigenetic phenomena involved in embryonic development of eutherians and humans. Molecular mechanisms of imprinting disturbances in the pathology of prenatal and postnatal onthogenesis are to a great extent related to methylation abnormalities of the imprinted genes. Over recent years, data are accumulating on multiple abnormalities of methylation simultaneously in several imprinted loci in the development of various pathologies that raises the issue of deciphering the structural and functional organization of imprintome and the interaction of imprinted genes. The present work analyzes DNA methylation of 51 imprinted genes in the placental tissues of human spontaneous abortions. We revealed multiple epimutations in from four to 12 imprinted genes in every embryo. Most of the epimutations (78%) were of a postzygotic origin. It has been established for the first time that the total incidence of meth ylation disturbance in maternal and paternal alleles of the imprinted genes leading to embryo development suppression is significantly higher than the incidence of epimutations, which stimulate embryogenesis. This fact supports at the epigenetic level the hypothesis of parent offspring conflict that describes the occurrence of a monoallelic expression of imprinted genes in mammalian evolution.

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“…To date, eight studies have been performed to find UPD in spontaneous abortions [25][26][27][28][29][30][31][32] (Table 1). However, the obtained results were modest.…”

Section: Upd In Spontaneous Abortionsmentioning

confidence: 99%

Genomic Imprinting and Human Reproduction

Лебедев¹

2014

Epigenetics and Epigenomics

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Evaluation of the Role of Uniparental Disomy in Early Embryolethality of Man

Cited by 7 publications

References 49 publications

A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

Multilocus epimutations of imprintome in the pathology of human embryo development

Genomic Imprinting and Human Reproduction

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