Heteromorphic variants of chromosome 9

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Abstract

Background

Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers.

Results

In this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph (11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes.

Conclusions

Based on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants.

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Most cited references 24

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Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones.

Kathleen Wilhelm, Anja Weise, J. K. Behr … (2010)

Since the first description of human fragile sites (FS) more than 40 years ago, a variety of substances were reported to induce chromosomal breaks at non-random, breakage-prone regions. According to information available from human genome browsers aphidicolin, an inhibitor of DNA replication induces 77 of 88 known common FS. However, in the literature additional FS are reported, which are also, at least in part, inducible by aphidicolin. To the best of our knowledge, here we present the first and largest ever done systematic, whole genome-directed and comprehensive screening for aphidicolin-inducible breakage-prone regions. The study was performed on stimulated peripheral blood lymphocytes of 3 unrelated healthy individuals. Twenty-five thousand metaphase spreads were analyzed and overall 22,537 FS located in 230 different loci were recorded. Sixty-one of those FS were never observed before and 52 were already previously reported but not included in genome browsers and yet verified. Interestingly, aphidicolin was able to induce all types of rare and common FS, suggesting that these breakage-prone regions are less dependent on the inducing chemicals than originally supposed. Overall, we provide the first comprehensive genome wide map for FS and studied possible correlations of chromosome length and GTG-banding level with FS-frequency. To handle FS better in future, an extension of the already existing alphabetical nomenclature for FS on single chromosomes is suggested.

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A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype.

Sheroy Minocherhomji, Prochi F Madon, Arundhati Athalye … (2009)

To study the association of chromosomal polymorphic variations with infertility and subfertility. A comparative case-controlled association study using cytogenetic techniques to compare the frequency of chromosomal variations in infertile individuals versus fertile controls. Department of Infertility Management and Assisted Reproduction, Jaslok Hospital and Research Centre, Mumbai, India. 760 infertile individuals and 555 fertile controls. ICSI, IUI, karyotyping, inverted 4',6-diamidino-2-phenylindole (DAPI), CBG banding. Frequency of chromosomal polymorphic variations in infertile individuals undergoing infertility treatment versus fertile individuals. A highly statistically significant increase in the frequency of total chromosomal variants in infertile women (28.31% vs. 15.16%) and infertile men (58.68% vs. 32.55%) was observed. The frequency of 9qh+ was statistically significantly increased in women with primary infertility (16.22% vs. 6.41%) and in men with severe male factor infertility (14.69% vs. 4.25%). A highly statistically significant increase in the frequency of Yqh+ was observed in men whose wives had a bad obstetric history (30.20% vs. 12.74%). The statistically significantly higher incidence of heterochromatic variations found in infertile individuals stresses on the need to evaluate their role in infertility and subfertility. Potential epigenetic, genetic, and chromosomal modifications could be associated with certain complex disorders such as infertility and bad obstetric history.

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Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes.

Michael R. Speicher, J. K. Kraus, J. L. La Rosa Navarro … (2006)

Alterations of synapsis can disturb or arrest meiosis and result in infertility. Synaptic abnormalities are frequently observed in infertile patients but also in fertile men. The subtelomere-specific multiplex fluorescence in-situ hybridization (stM-FISH) has been applied in combination with immunofluorescence to identify all synaptonemal complexes (SCs) and to analyse those presenting synaptic anomalies in fertile and infertile men. SCs with heterochromatin blocks other than centromere (noncentromeric heterochromatin) presented a higher frequency of gaps (SC discontinuities) and splits (unsynapsed SC regions) at pachytene, the incidences for 9qh, 1qh, 15p and 21p being the highest ones. Inter-individual variability in the incidence of synaptic anomalies in these regions has been observed. In addition, synaptic anomalies in other SC regions are more frequent in infertile cases than in controls. Clear association of the SC15 and SC21 to the XY pair has been seen. Noncentromeric heterochromatic regions are the last to synapse. The inter-individual variation observed in the incidence of gaps and splits in these regions may be explained by the heteromorphism of these regions in the general population. The presence of synaptic anomalies in other SC regions may indicate nuclei with a severely affected synapsis. Noncentromeric heterochromatic regions might play a role in the association of autosomal SC15 and SC21 with the XY pair.

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Author and article information

Journal

Journal ID (nlm-ta): Mol Cytogenet

Journal ID (iso-abbrev): Mol Cytogenet

Title: Molecular Cytogenetics

Publisher: BioMed Central

ISSN (Electronic): 1755-8166

Publication date Collection: 2013

Publication date (Electronic): 1 April 2013

Volume: 6

Page: 14

Affiliations

[1 ]Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743, Jena, Germany

[2 ]Research Center of Maternal and Child Health Protection, Mashtots Ave. 22, 0002, Yerevan, Armenia

[3 ]Centre of Medical Genetics and Primary Health Care, Abovyan av. 34/3, Yerevan, Armenia

[4 ]Department of Genetic and Laboratory of Cytogenetics, State University, 1, Alex Manoukian Street, Yerevan, Armenia

[5 ]National Medical Center ‘Mother and Child’, Orlovskaya Str. 66, 220053, Minsk, Belarus

[6 ]Regional Medical Genetics Center, Kirova str, 57, 246022, Gomel, Belarus

[7 ]Regional Medical Genetics Center, Kirova str., 88, 224013, Brest, Belarus

[8 ]Institute of Human Genetics, Leipziger Str. 44, 39120, Magdeburg, Germany

[9 ]Zentrum für Ambulante Medizin, Jena University Hospital, Carl Zeiß-Platz 8 07743, Jena, Germany

[10 ]Children Hospital, Jena University Hospital, Friedrich Schiller University, Kochstr. 2, D-07743, Jena, Germany

[11 ]Partnerschaft, Kurfürstendamm, 19910719, Berlin, Germany

[12 ]MVZ-Labor, Strümpellstr. 40, 04289, Leipzig, Germany

[13 ]School of Medicine Zagreb University, Croatian Institute for Brain Research, Zagreb, Croatia

[14 ]Genetische Beratung und klinische Genetik Biomedizinisches Zentrum, Kardinal-Wendel-Str. 14, 66424, Homburg, Germany

[15 ]AbaCid-Genética Hospital de Madrid Norte Sanchinarro, Madrid, Spain

[16 ]Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey

[17 ]Institute of Pediatrics and Children Surgery, Ministry of Health of the Russian Federation, 125412, Moscow, Russia

[18 ]Departamento de Genetica e Evolucao, Universidade Federal de Sao Carlos, Sao Carlos, SP, Brazil

Article

Publisher ID: 1755-8166-6-14

DOI: 10.1186/1755-8166-6-14

PMC ID: 3626942

PubMed ID: 23547710

SO-VID: 54e785e4-39e1-4785-ac2d-41e662661584

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Heteromorphic variants of chromosome 9

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Abstract

Background

Results

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Genomic Prediction

Most cited references 24

Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones.

A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype.

Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes.

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