Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source
Alternating Dynamics of
mSphere, 2020 Condensins are essential for global chromosome organization in diverse bacteria. Atypically, the Pseudomonas aeruginosa chromosome encodes condensins from two superfamilies, SMC-ScpAB and MksBEF.
Hang Zhao +3 more
doaj +1 more source
Integrative genomics analysis identifies pericentromeric regions of human chromosomes affecting patterns of inter-chromosomal interactions [PDF]
arXiv, 2014 Genome-wide analysis of distributions of densities of long-range interactions of human chromosomes with each other, nucleoli, nuclear lamina, and binding sites of chromatin state regulatory proteins, CTCF and STAT1, identifies non-random highly correlated patterns of density distributions along the chromosome length for all these features.
arxiv
Removal of antagonistic spindle forces can rescue metaphase spindle length and reduce chromosome segregation defects [PDF]
, 2012 Regular Abstracts - Tuesday Poster Presentations: no. 1925Metaphase describes a phase of mitosis where chromosomes are attached and oriented on the bipolar spindle for subsequent segregation at anaphase.
Fu, C, Syrovaktina, V, Tran, P
core
The dynamics of signal amplification by macromolecular assemblies for the control of chromosome segregation [PDF]
, 2014 The control of chromosome segregation relies on the spindle assembly checkpoint (SAC), a complex regulatory system that ensures the high fidelity of chromosome segregation in higher organisms by delaying the onset of anaphase until each chromosome is ...
Bolanos-Garcia, Victor M., Lee, Semin
core +3 more sources
Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips +9 more
wiley +1 more source
Magnification of Genes Coding for Ribosomal RNA in Saccharomyces cerevisiae [PDF]
, 1977 When a strain of Saccharomyces cerevisiae monosomic for chromosome I and initially deficient for 25% of the genes coding for ribosomal RNA is repeatedly subcultured, the number of these genes increases to and remains stable at the number in the wild type.
Halvorson, Harlyn O., Kaback, David B.
core
A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]
, 2016 Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans.
Burgess, Sean M, Chu, Daniel B
core +3 more sources
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone +11 more
wiley +1 more source
Using Fluorescence Recovery After Photobleaching (FRAP) to study dynamics of the Structural Maintenance of Chromosome (SMC) complex in vivo [PDF]
arXiv, 2016 The SMC complex, MukBEF, is important for chromosome organization and segregation in Escherichia coli. Fluorescently tagged MukBEF forms distinct spots (or 'foci') in the cell, where it is thought to carry out most of its chromosome associated activities.
arxiv