Somatic Genomic Variations in Extra-Embryonic Tissues

Weier, Jingly; Ferlatte, Christy; Weier, Heinz-Ulli

doi:10.2174/138920210793175994

Somatic Genomic Variations in Extra-Embryonic Tissues

Journal Article · Wed Sep 01 00:00:00 EDT 2010 · Current Genomics

DOI:https://doi.org/10.2174/138920210793175994· OSTI ID:1628005

Weier, Jingly ^[1]; Ferlatte, Christy ^[2]; Weier, Heinz-Ulli ^[3]

Univ. of California, San Francisco, CA (United States); Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Life Sciences Division. Dept. of Cancer and DNA Damage Responses; DOE/OSTI
Univ. of California, San Francisco, CA (United States); Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Life Sciences Division. Dept. of Cancer and DNA Damage Responses
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Life Sciences Division. Dept. of Cancer and DNA Damage Responses

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.

View Accepted Manuscript (DOE)

Research Organization:: Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)

Sponsoring Organization:: USDOE Office of Science (SC), Biological and Environmental Research (BER). Biological Systems Science Division

Grant/Contract Number:: AC02-05CH11231

OSTI ID:: 1628005

Journal Information:: Current Genomics, Journal Name: Current Genomics Journal Issue: 6 Vol. 11; ISSN 1389-2029

Publisher:: Bentham Science PublishersCopyright Statement

Country of Publication:: United States

Language:: English

References (49)

Trisomy 21 is associated with variable defects in cytotrophoblast differentiation along the invasive pathway Wright, Alexi; Zhou, Yan; Weier, Jingly Fung American Journal of Medical Genetics, Vol. 130A, Issue 4 https://doi.org/10.1002/ajmg.a.30254	journal	January 2004
Numerical abnormalities of chromosome 7 in human prostate cancer detected by fluorescencein situ hybridization (FISH) on paraffin-embedded tissue sections with centromere-specific dna probes Zitzelsberger, Horst; Szücs, Sandor; Weier, Heinz-Ulrich The Journal of Pathology, Vol. 172, Issue 4 https://doi.org/10.1002/path.1711720407	journal	April 1994
Cytogenetic results from the U.S. collaborative study on CVS Ledbetter, D. H.; Zachary, J. M.; Simpson, J. L. Prenatal Diagnosis, Vol. 12, Issue 5 https://doi.org/10.1002/pd.1970120503	journal	May 1992
Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey Wolstenholme, J.; Rooney, D. E.; Davison, E. V. Prenatal Diagnosis, Vol. 14, Issue 5 https://doi.org/10.1002/pd.1970140505	journal	May 1994
The Transition to Endoreduplication in Trophoblast Giant Cells Is Regulated by the mSNA Zinc Finger Transcription Factor Nakayama, Hiroki; Scott, Ian C.; Cross, James C. Developmental Biology, Vol. 199, Issue 1 https://doi.org/10.1006/dbio.1998.8914	journal	July 1998
Labeling of the centromeric region on human chromosome 8 by in situ hybridization Weier, Heinz-UlrichG.; Gray, JoeW.; Kleine, Hans-Dieter Human Genetics, Vol. 87, Issue 4 https://doi.org/10.1007/bf00197174	journal	August 1991
Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions? Rehder, Helga; Coerdt, Wiltrud; Eggers, Reinhard Human Genetics, Vol. 82, Issue 4 https://doi.org/10.1007/bf00274002	journal	July 1989
Trophoblastic invasion and modification of uterine veins during placental development in macaques Blankenship, Thomas N.; Enders, Allen C.; King, Barry F. Cell & Tissue Research, Vol. 274, Issue 1 https://doi.org/10.1007/bf00327994	journal	October 1993
Reduction in signal overlap results in increased FISH efficiency: Implications for preimplantation genetic diagnosis Munné, Santiago; Dailey, Theresa; Finkelstein, Michelle Journal of Assisted Reproduction and Genetics, Vol. 13, Issue 2 https://doi.org/10.1007/bf02072537	journal	February 1996
Distribution of mosaicism in human placentae Henderson, Karen G.; Shaw, Tracey E.; Barrett, Irene J. Human Genetics, Vol. 97, Issue 5 https://doi.org/10.1007/bf02281877	journal	May 1996
Aneuploidy involving chromosome 1 in failed-fertilized human oocytes is unrelated to maternal age Weier, Jingly Fung; Weier, Heinz-Ulrich G.; Nureddin, Aida Journal of Assisted Reproduction and Genetics, Vol. 22, Issue 7-8 https://doi.org/10.1007/s10815-005-5999-7	journal	August 2005
Reprint of: Estimates of human fertility and pregnancy loss Zinaman, Michael J.; Clegg, Eric D.; Brown, Charles C. Fertility and Sterility, Vol. 112, Issue 4 https://doi.org/10.1016/j.fertnstert.2019.08.096	journal	October 2019
The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1 Yurov, Yuri B.; Iourov, Ivan Y.; Vorsanova, Svetlana G. Schizophrenia Research, Vol. 98, Issue 1-3 https://doi.org/10.1016/j.schres.2007.07.035	journal	January 2008
Endopolyploidization and the interstitial invasion of the supergiant trophoblast cells of the field vole Microtus rossiaemeridionalis Zybina, E. V.; Bogdanova, M. S.; Stein, G. I. Tissue and Cell, Vol. 41, Issue 5 https://doi.org/10.1016/j.tice.2009.02.001	journal	October 2009
Human cytotrophoblasts acquire aneuploidies as they differentiate to an invasive phenotype Weier, Jingly F.; Weier, Heinz-Ulrich G.; Jung, Christine J. Developmental Biology, Vol. 279, Issue 2 https://doi.org/10.1016/j.ydbio.2004.12.035	journal	March 2005
A Repertoire of Cell Cycle Regulators Whose Expression Is Coordinated with Human Cytotrophoblast Differentiation Genbacev, Olga; McMaster, Michael T.; Fisher, Susan J. The American Journal of Pathology, Vol. 157, Issue 4 https://doi.org/10.1016/s0002-9440(10)64648-2	journal	October 2000
Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature Mergenthaler, Susanne; Wollmann, Hartmut A.; Burger, Bettina Annales de Génétique, Vol. 43, Issue 1 https://doi.org/10.1016/s0003-3995(00)00010-1	journal	January 2000
Chapter 12 Placental Remodeling of the Uterine Vasculature Hunkapiller, Nathan M.; Fisher, Susan J. Angiogenesis: In Vivo Systems, Part B https://doi.org/10.1016/s0076-6879(08)03012-7	book	January 2008
Histological study of the materno-embryonic interface in spontaneous abortion Hustin, J.; Jauniaux, E.; Schaaps, J. P. Placenta, Vol. 11, Issue 6 https://doi.org/10.1016/s0143-4004(05)80193-6	journal	November 1990
The earliest known eutherian mammal Ji, Qiang; Luo, Zhe-Xi; Yuan, Chong-Xi Nature, Vol. 416, Issue 6883 https://doi.org/10.1038/416816a	journal	April 2002
Genomics, biogeography, and the diversification of placental mammals Wildman, Derek E.; Uddin, Monica; Opazo, Juan C. Proceedings of the National Academy of Sciences, Vol. 104, Issue 36 https://doi.org/10.1073/pnas.0704342104	journal	September 2007
Adhesive and degradative properties of human placental cytotrophoblast cells in vitro. Fisher, S. J.; Cui, T. Y.; Zhang, L. The Journal of Cell Biology, Vol. 109, Issue 2 https://doi.org/10.1083/jcb.109.2.891	journal	August 1989
92-kD type IV collagenase mediates invasion of human cytotrophoblasts. Librach, C. L.; Werb, Z.; Fitzgerald, M. L. Journal of Cell Biology, Vol. 113, Issue 2 https://doi.org/10.1083/jcb.113.2.437	journal	April 1991
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain Iourov, Ivan Y.; Vorsanova, Svetlana G.; Liehr, Thomas Human Molecular Genetics, Vol. 18, Issue 14 https://doi.org/10.1093/hmg/ddp207	journal	May 2009
Carrier-specific breakpoint-spanning DNA probes: an approach to preimplantation genetic diagnosis in interphase cells Cassel, M. J.; Munne, S.; Fung, J. Human Reproduction, Vol. 12, Issue 9 https://doi.org/10.1093/humrep/12.9.2019	journal	September 1997
Endometrial factors in recurrent miscarriage Li, T. C. Human Reproduction Update, Vol. 8, Issue 1 https://doi.org/10.1093/humupd/8.1.43	journal	January 2002
Vaginal Spermicides and Spontaneous Abortion of Known Karyotype Strobino, Barbara; Kline, Jennie; Lai, Annie American Journal of Epidemiology, Vol. 123, Issue 3 https://doi.org/10.1093/oxfordjournals.aje.a114258	journal	March 1986
Histological classification of tissue from spontaneous abortions: a valueless exercise? Fox, H. Histopathology, Vol. 22, Issue 6 https://doi.org/10.1111/j.1365-2559.1993.tb00186.x	journal	June 1993
Trophoblast-mediated spiral artery remodelling: a role for apoptosis Whitley, Guy St J.; Cartwright, Judith E. Journal of Anatomy, Vol. 215, Issue 1 https://doi.org/10.1111/j.1469-7580.2008.01039.x	journal	July 2009
A Class I Antigen, HLA-G, Expressed in Human Trophoblasts Kovats, Susan; Main, Elliott K.; Librach, Clifford Science, Vol. 248, Issue 4952 https://doi.org/10.1126/science.2326636	journal	April 1990
Regulation of Human Placental Development by Oxygen Tension Genbacev, Olga; Zhou, Yan; Ludlow, John W. Science, Vol. 277, Issue 5332 https://doi.org/10.1126/science.277.5332.1669	journal	September 1997
Implantation and the placenta: key pieces of the development puzzle Cross, J.; Werb, Z.; Fisher, S. Science, Vol. 266, Issue 5190 https://doi.org/10.1126/science.7985020	journal	December 1994
Abnormal bacterial colonisation of the genital tract and subsequent preterm delivery and late miscarriage Hay, P. E.; Lamont, R. F.; Taylor-Robinson, D. BMJ, Vol. 308, Issue 6924 https://doi.org/10.1136/bmj.308.6924.295	journal	January 1994
Confined placental mosaicism. Kalousek, D. K.; Vekemans, M. Journal of Medical Genetics, Vol. 33, Issue 7 https://doi.org/10.1136/jmg.33.7.529	journal	July 1996
Reprogramming the Cell Cycle for Endoreduplication in Rodent Trophoblast Cells MacAuley, Alasdair; Cross, James C.; Werb, Zena American Society for Cell Biology https://doi.org/10.11575/prism/35597	other	January 1998
Cytogenetics and mechanisms of spontaneous abortions: increased apoptosis and decreased cell proliferation in chromosomally abnormal villi Qumsiyeh, M. B.; Kim, K. -R.; Ahmed, M. N. Cytogenetic and Genome Research, Vol. 88, Issue 3-4 https://doi.org/10.1159/000015557	journal	January 2000
Molecular cytogenetic studies towards the full karyotype analysis of human blastocysts and cytotrophoblasts Weier, J. F.; Ferlatte, C.; Baumgartner, A. Cytogenetic and Genome Research, Vol. 114, Issue 3-4 https://doi.org/10.1159/000094218	journal	January 2006
Detection of Structural and Numerical Chromosome Abnormalities in Interphase Cells Using Spectral Imaging Fung, Jingly; Weier, H. -Ulli G.; Pedersen, Roger A. Journal of Histochemistry & Cytochemistry, Vol. 49, Issue 6 https://doi.org/10.1177/002215540104900616	journal	June 2001
Chromosomal mosaicism goes global Iourov, Ivan Y.; Vorsanova, Svetlana G.; Yurov, Yuri B. Molecular Cytogenetics, Vol. 1, Issue 1 https://doi.org/10.1186/1755-8166-1-26	journal	January 2008
GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny Yurov, Yuri B.; Vorsanova, Svetlana G.; Iourov, Ivan Y. Molecular Cytogenetics, Vol. 2, Issue 1 https://doi.org/10.1186/1755-8166-2-23	journal	January 2009
Human interphase chromosomes: a review of available molecular cytogenetic technologies Vorsanova, Svetlana G.; Yurov, Yuri B.; Iourov, Ivan Y. Molecular Cytogenetics, Vol. 3, Issue 1 https://doi.org/10.1186/1755-8166-3-1	journal	January 2010
Cytogenetic contribution to uniparental disomy (UPD) Liehr, Thomas Molecular Cytogenetics, Vol. 3, Issue 1 https://doi.org/10.1186/1755-8166-3-8	journal	January 2010
The Variation of Aneuploidy Frequency in the Developing and Adult Human Brain Revealed by an Interphase FISH Study Yurov, Yuri B.; Iourov, Ivan Y.; Monakhov, Viktor V. Journal of Histochemistry & Cytochemistry, Vol. 53, Issue 3 https://doi.org/10.1369/jhc.4a6430.2005	journal	March 2005
Chromosome-specific DNA Repeat Probes Baumgartner, Adolf; Weier, Jingly Fung; Weier, Heinz-Ulrich G. Journal of Histochemistry & Cytochemistry, Vol. 54, Issue 12 https://doi.org/10.1369/jhc.6a6974.2006	journal	August 2006
Aneuploidy and Confined Chromosomal Mosaicism in the Developing Human Brain Yurov, Yuri B.; Iourov, Ivan Y.; Vorsanova, Svetlana G. PLoS ONE, Vol. 2, Issue 6 https://doi.org/10.1371/journal.pone.0000558	journal	June 2007
Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues Mkrtchyan, Hasmik; Gross, Madeleine; Hinreiner, Sophie PLoS ONE, Vol. 5, Issue 3 https://doi.org/10.1371/journal.pone.0009591	journal	March 2010
DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints Lu, Chun-Mei; Kwan, Johnson; Baumgartner, Adolf https://doi.org/10.2172/960431	report	January 2009
Molecular Cytogenetics and Cytogenomics of Brain Diseases Iourov, I.; Vorsanova, S.; Yurov, Y. Current Genomics, Vol. 9, Issue 7 https://doi.org/10.2174/138920208786241216	journal	November 2008
DNA ploidy and proliferative characteristics of human trophoblasts Wakuda, Koji; Yoshida, Yoshinobu Acta Obstetricia et Gynecologica Scandinavica, Vol. 71, Issue 1 https://doi.org/10.3109/00016349209007940	journal	January 1992

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