Gross Chromosomal Rearrangement at Centromeres [PDF]
Biomolecules, 2023 Centromeres play essential roles in the faithful segregation of chromosomes. CENP-A, the centromere-specific histone H3 variant, and heterochromatin characterized by di- or tri-methylation of histone H3 9th lysine (H3K9) are the hallmarks of centromere ...
Ran Xu, Ziyi Pan, Takuro Nakagawa
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Mechanisms of structural chromosomal rearrangement formation [PDF]
Molecular Cytogenetics, 2022 Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability.
Bruna Burssed +3 more
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Decoding the fibromelanosis locus complex chromosomal rearrangement of black-bone chicken: genetic differentiation, selective sweeps and protein-coding changes in Kadaknath chicken [PDF]
Frontiers in Genetics, 2023 Black-bone chicken (BBC) meat is popular for its distinctive taste and texture. A complex chromosomal rearrangement at the fibromelanosis (Fm) locus on the 20th chromosome results in increased endothelin-3 (EDN3) gene expression and is responsible for ...
Sagar Sharad Shinde +2 more
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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement [PDF]
Molecular Cytogenetics, 2018 Background Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.
Constantia Aristidou +6 more
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Enhancing recombinant protein production through Cre-loxP mediated chromosomal rearrangement evolution in Kluyveromyces marxianus [PDF]
Communications BiologyChromosomal rearrangements can drive adaptive evolution; however, whether the rearrangements in non-coding and non-promoter regions can lead to new phenotypes under selective pressures remains unclear.
Haiyan Ren +6 more
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Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features [PDF]
Clinical Case Reports, 2022 Our patient is the first to encompass the full spectrum of reported features related to tetrasomy of the Prader–Willi Angelman Critical Region. She has a complex chromosomal rearrangement including an interstitial triplication reported in twelve cases ...
Lekha Chilakamarri +1 more
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Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement [PDF]
Molecular CytogeneticsBackground Monosomy 18p (MIM: 146390) is a well-known chromosomal disorder associated with intellectual disability, short stature, and non-specific craniofacial features resulting from partial or total deletion of the short arm of chromosome 18.
Ludovico Graziani +11 more
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Identification of recurrent 3q13.31 chromosomal rearrangement indicates LSAMP as a tumor suppressor gene in neuroblastoma. [PDF]
Int J Oncol, 2023 Martinez-Monleon A +4 more
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Optical genome mapping of a complex structural rearrangement family line on chromosome 18 [PDF]
HereditasBackground Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai +3 more
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Impact of chromosomal rearrangement upon DNA methylation patterns in leukemia [PDF]
Open Medicine, 2017 Genomic instability, including genetic mutations and chromosomal rearrangements, can lead to cancer development. Aberrant DNA methylation occurs commonly in cancer cells.
Byun Hyang-Min +7 more
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