Neocentromeres are fully functional centromeres that have arisen in previously noncentromeric chromosomal locations on rearranged chromosomes. The formation of neocentromeres results in the mitotic stability of chromosomal fragments that do not contain endogenous centromeres and that would normally be lost. Here we describe a unique collection of eight independent patient-derived cell lines, each of which contains a neocentromere on a supernumerary inversion duplication of a portion of human chromosome 13q. Findings in these patients reveal insight into the clinical manifestations associated with polysomy for portions of chromosome 13q. The results of FISH and immunofluorescent analysis of the neocentromeres in these chromosomes confirm the lack of alpha-satellite DNA and the presence of CENtromere proteins (CENP)-C, -E, and hMAD2. The positions of the inversion breakpoints in these chromosomes have been placed onto the physical map of chromosome 13, by means of FISH mapping with cosmid probes. These cell lines define, within chromosome 13q, at least three distinct locations where neocentromeres have formed, with five independent neocentromeres in band 13q32, two in band 13q21, and one in band 13q31. The results of examination of the set of 40 neocentromere-containing chromosomes that have thus far been described, including the 8 neocentromere-containing chromosomes from chromosome 13q that are described in the present study, suggest that chromosome 13q has an increased propensity for neocentromere formation, relative to some other human chromosomes. These neocentromeres will provide the means for testing hypotheses about sequence requirements for human centromere formation.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1378043 | PMC |
| http://dx.doi.org/10.1086/302924 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Changhua Christan Hospital, Changhua, Taiwan. Electronic address:
Objective: Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612-115092648) deletion.
View Article and Find Full Text PDFMosaic chromosomal alterations (mCAs) in individuals with monoclonal B-cell lymphocytosis (MBL).
Blood Cancer J
November 2024
Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
Article Synopsis
- - MBL (monoclonal B-cell lymphocytosis) is linked to an increased risk of developing chronic lymphocytic leukemia (CLL), and this study explores the relationship between MBL and mosaic chromosomal alterations (mCAs), which are structural DNA changes that also elevate CLL risk.
- - Researchers analyzed data from over 4,600 individuals using flow cytometry to detect MBL and advanced DNA techniques to identify mCAs, revealing that mCAs are highly prevalent in those with MBL and CLL.
- - The findings show that individuals with high-count MBL have a significantly higher likelihood (881-fold) of harboring CLL-related mCAs compared to those without MBL, which could
Deletions Rate-Limit Breast and Ovarian Cancer Initiation.
bioRxiv
October 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Optimizing prevention and early detection of cancer requires understanding the number, types and timing of driver mutations. To quantify this, we exploited the elevated cancer incidence and mutation rates in germline and carriers. Using novel statistical models, we identify genomic deletions as the likely rate-limiting mutational processes, with 1-3 deletions required to initiate breast and ovarian tumors.
View Article and Find Full Text PDFComprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma.
Br J Dermatol
October 2024
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Article Synopsis
- Cutaneous leiomyosarcoma (cLMS) is a rare skin tumor with smooth muscle differentiation, showing key genetic mutations in TP53 and RB1, along with copy number changes in other genes like MYCOD and IGF1R.
- This study aimed to thoroughly investigate the genetics of cLMS by analyzing a larger sample size (38 cases) using whole-exome and RNA sequencing, revealing significant recurrent mutations and potential environmental factors like UV exposure.
- Findings indicated critical genetic alterations, including various deletions and amplifications, highlighting the complexity of cLMS and emphasizing the need for extensive genetic analysis in rare tumors for better understanding and potential treatment options.
Genomic alterations in retinoblastoma tumors of Argentine patients.
Ophthalmic Genet
December 2024
Department of Genetics, Pharmacy and Biochemistry Faculty, Hospital de Clínicas UBA INIGEM UBA CONICET, Buenos Aires, Argentina.
Introduction: Retinoblastoma is initiated by inactivation of gene, but additional alterations may be required for tumor progression. Substitution and INDEL variants in different genes, aside , are infrequent, while large copy number variants (CNVs) like gains on 1q, 2p, 6p and loss on 16q are common, they include oncogenes or tumor suppressors and are typical of retinoblastoma.
Aim: To provide the molecular profile that is useful for prognosis and understanding of retinoblastoma development.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!