Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.
BMC Med Genomics
September 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES).
Case Presentation: Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS).
Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features resulting from a complex rearrangement of chromosome 11 inherited from his mother. We studied the index case with karyotyping, MS-MLPA and molecular karyotyping.
View Article and Find Full Text PDFDifferentiated sex chromosomes, karyotype evolution, and spontaneous triploidy in carphodactylid geckos.
J Hered
May 2024
Department of Ecology, Faculty of Science, Charles University, Prague, Czech Republic.
Geckos exhibit derived karyotypes without a clear distinction between macrochromosomes and microchromosomes and intriguing diversity in sex determination mechanisms. We conducted cytogenetic analyses in six species from the genera Nephrurus, Phyllurus, and Saltuarius of the gecko family Carphodactylidae. We confirmed the presence of a female heterogametic system with markedly differentiated and heteromorphic sex chromosomes in all examined species, typically with the W chromosome notably larger than the Z chromosome.
View Article and Find Full Text PDFRepositioning of centromere-associated repeats during karyotype evolution in Oryzias fishes.
Mol Ecol
December 2024
Ecological Genetics Laboratory, National Institute of Genetics, Mishima, Japan.
Article Synopsis
- The karyotype, which refers to the number and shape of chromosomes, is crucial for understanding evolutionary processes like speciation in eukaryotes.
- Traditional views suggested that changes in chromosome number were mainly due to fusions and fissions, while shape changes arose from inversions; however, newer studies propose alternative mechanisms such as tandem fusions and centromere repositioning.
- Research on medaka fishes (Oryzias species) shows significant differences in karyotypes among groups, revealing that centromere repositioning may be more influential in karyotype evolution than previously known.
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Am J Med Genet A
March 2024
Illumina Inc, San Diego, California, USA.
We describe a family with two maternal half-brothers both of whom presented with muscular dystrophy, autism spectrum disorder, developmental delay, and sensorineural hearing loss. The elder brother had onset of features at ~3 months of age, followed by clinical confirmation of muscular dystrophy at 3 years. Skeletal biopsy staining at 4.
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!