Derivative chromosomes of 40 patients diagnosed with t(4;11) acute lymphoblastic leukemia (ALL) were analysed on the genomic DNA level. Chromosomal breakpoints were identified in most cases within the known breakpoint cluster regions of the involved MLL and AF4 genes. Due to our current knowledge of the primary DNA sequences of both breakpoint cluster regions, specific features were identified at the chromosomal fusion sites, including deletions, inversions and duplications of parental DNA sequences. After separation of all t(4;11) leukemia patients into two age classes (below and above 1 year of age), the analysis of chromosomal fusion sites revealed significant differences in the distribution of chromosomal breakpoints and led to the definition of two hotspot areas within the MLL breakpoint cluster region. This may point to the possibility of different age-linked mechanisms that were leading to t(4;11) chromosomal translocations.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/sj.onc.1204401 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Structural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics.
Clin Chem
January 2025
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, United States.
Background: Structural variation (SV), defined as balanced and unbalanced chromosomal rearrangements >1 kb, is a major contributor to germline and neoplastic disease. Large variants have historically been evaluated by chromosome analysis and now are commonly recognized by chromosomal microarray analysis (CMA). The increasing application of genome sequencing (GS) in the clinic and the relatively high incidence of chromosomal abnormalities in sick newborns and children highlights the need for accurate SV interpretation and reporting.
View Article and Find Full Text PDFAncestral genome reconstruction and the evolution of chromosomal rearrangements in Triticeae.
J Genet Genomics
December 2024
State Key Laboratory of Plant Diversity and Specialty Crops, Institute of Botany, the Chinese Academy of Sciences, Beijing 100093, China; State Key Laboratory of Systematic and Evolutionary Botany, Institute of Botany, the Chinese Academy of Sciences, Beijing 100093, China; University of Chinese Academy of Sciences, Beijing 100049, China. Electronic address:
Chromosomal rearrangements (CRs) often cause phenotypic variations. Although several major rearrangements have been identified in Triticeae, a comprehensive study of the order, timing, and breakpoints of CRs has not been conducted. Here, we reconstruct high-quality ancestral genomes for the most recent common ancestor (MRCA) of the Triticeae, and the MRCA of the wheat lineage (Triticum and Aegilops).
View Article and Find Full Text PDFKaryotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review.
Congenit Anom (Kyoto)
January 2025
Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Yokohama, Japan.
Article Synopsis
- Turner syndrome is a genetic disorder caused by the deletion of one X chromosome, leading to diverse karyotypes and phenotypes, but predicting phenotypes remains challenging due to mosaicism.
- A study included 487 Turner women with non-mosaic X chromosome structural rearrangements and found prevalence rates of short stature (72.4%) and ovarian dysfunction (78.8%) linked to specific deletion groups.
- Understanding the specific X chromosome breakpoints is crucial for managing Turner syndrome, particularly for predicting and addressing ovarian dysfunction and future fertility issues.
DEK::AFF2 fusion-associated middle ear non-keratinizing squamous cell carcinoma: A case report.
World J Clin Oncol
December 2024
Department of Pathology, Peking University People's Hospital, Beijing 100044, China.
Background: Primary squamous cell carcinoma (SCC) of the middle ear is rare, with non-keratinizing basaloid types being exceptionally uncommon. Distinguishing these cancers, often caused by viral factors (, human papillomavirus or Epstein-Barr virus), or specific genetic alterations (, bromodomain-containing protein 4-nuclear protein in or gene fused with FLI chromosomal rearrangement), from other cranial conditions, is difficult. The recently identified DEK::AFF2 non-keratinizing SCC (NKSCC) is a novel subtype, fitting the World Health Organization classification of head and neck neoplasms.
View Article and Find Full Text PDFIntragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature.
Endocr J
December 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
Over 70 intragenic copy-number variations (CNVs) of PHEX have been identified in patients with X-linked hypophosphatemia (XLH). However, the underlying mechanism of these CNVs has been poorly investigated. Furthermore, although PHEX undergoes X chromosome inactivation (XCI), the association between XLH in women with heterozygous PHEX variants and skewed XCI remains unknown.
View Article and Find Full Text PDFWant 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!