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Pervasive relaxed selection on spermatogenesis genes coincident with the evolut...

Bowman, Jacob D.; Silva, Neide; Schüftan, Erik; Almeida, Joana M.; Brattig-Correia, Rion; Oliveira, Raquel A.; Tüttelmann, Frank; Enard, David

Gorillas have a polygynous social system in which the highest-ranking male has almost exclusive access to females and sires most of the offspring in the troop. Such behavior results in a dramatic reduction of sperm competition, which is ultimately associated with numerous traits that cause low efficacy of gorilla spermatogenesis. However, the molecular basis behind the remarkable erosion of the gorilla male rep...


Compromised mitotic fidelity in human pluripotent stem cells

Milagre, Inês; Pereira, Carolina; Oliveira, Raquel A.

Human pluripotent stem cells (PSCs), which include both embryonic and induced pluripotent stem cells, are widely used in fundamental and applied biomedical research. They have been instrumental for better understanding development and cell differentiation processes, disease origin and progression and can aid in the discovery of new drugs. PSCs also hold great potential in regenerative medicine to treat or dimin...


A dual-function SNF2 protein drives chromatid resolution and nascent transcript...

Carmo, Catarina; Coelho, João; Silva, Rui D.; Tavares, Alexandra; Boavida, Ana; Gaetani, Paola; Guilgur, Leonardo G.; Martinho, Rui Gonçalo

Mitotic chromatin is largely assumed incompatible with transcription due to changes in the transcription machinery and chromosome architecture. However, the mechanisms of mitotic transcriptional inactivation and their interplay with chromosome assembly remain largely unknown. By monitoring ongoing transcription in Drosophila early embryos, we reveal that eviction of nascent mRNAs from mitotic chromatin occurs a...


Endoplasmic reticulum membranes are continuously required to maintain mitotic s...

Araújo, Margarida; Tavares, Alexandra; Vieira, Diana V.; Telley, Ivo A.; Oliveira, Raquel A.

Membrane organelle function, localization, and proper partitioning upon cell division depend on interactions with the cytoskeleton. Whether membrane organelles also impact the function of cytoskeletal elements remains less clear. Here, we show that acute disruption of the ER around spindle poles affects mitotic spindle size and function in Drosophila syncytial embryos. Acute ER disruption was achieved through t...


Pervasive relaxed selection on spermatogenesis genes coincident with the evolut...

Bowman, Jacob D.; Silva, Neide; Schüftan, Erik; Almeida, Joana M.; Brattig-Correia, Rion; Oliveira, Raquel A.; Tüttelmann, Frank; Enard, David

Gorillas have a polygynous social system in which the highest-ranking male has almost exclusive access to females and sires most of the offspring in the troop. Such behavior results in a dramatic reduction of sperm competition, which is ultimately associated with numerous traits that cause low efficacy of gorilla spermatogenesis. However, the molecular basis behind the remarkable erosion of the gorilla male rep...


Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable ...

Carvalhal, Sara; Bader, Ingrid; Rooimans, Martin A.; Oostra, Anneke B.; Balk, Jesper A.; Feichtinger, René G.; Beichler, Christine; Speicher, Michael R.

Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-specific features. The identified mutations cause variable degrees of reduced total protein level and kinase activity, leading to distinct mitotic defects. Both patients...


An SNF2 helicase-like protein links mitotic transcription termination to sister...

Carmo, Catarina; Coelho, João; Silva, Rui; Tavares, Alexandra; Boavida, Ana; Gaetani, Paola; Martinho, Rui Gonçalo; Oliveira, Raquel A.

Mitotic chromatin is largely assumed incompatible with transcription due to changes in the transcription machinery and chromosome architecture. However, the mechanisms of mitotic transcriptional inactivation and their interplay with chromosome assembly remain largely unknown. By monitoring ongoing transcription in Drosophila early embryos, we reveal that eviction of nascent mRNAs from mitotic chromatin occurs a...


Absence of the spindle assembly checkpoint restores mitotic fidelity upon loss ...

Silva, Rui; Mirkovic, Mihailo; Guilgur, Leonardo G.; Rathore, Om; Martinho, Rui Goncalo; Oliveira, Raquel A.

The fidelity of mitosis depends on cohesive forces that keep sister chromatids together. This is mediated by cohesin that embraces sister chromatid fibers from the time of their replication until the subsequent mitosis [1-3]. Cleavage of cohesin marks anaphase onset, where single chromatids are dragged to the poles by the mitotic spindle [4-6]. Cohesin cleavage should only occur when all chromosomes are properl...


Novel insights into mitotic chromosome condensation

Piskadlo, Ewa; Oliveira, Raquel A.

The fidelity of mitosis is essential for life, and successful completion of this process relies on drastic changes in chromosome organization at the onset of nuclear division. The mechanisms that govern chromosome compaction at every cell division cycle are still far from full comprehension, yet recent studies provide novel insights into this problem, challenging classical views on mitotic chromosome assembly. ...


Centromere-Independent Accumulation of Cohesin at Ectopic Heterochromatin Sites...

Oliveira, Raquel A.; Kotadia, Shaila; Tavares, Alexandra; Mirkovic, Mihailo; Bowlin, Katherine; Eichinger, Christian S.; Nasmyth, Kim; Sullivan, William

Pericentric heterochromatin, while often considered as "junk" DNA, plays important functions in chromosome biology. It contributes to sister chromatid cohesion, a process mediated by the cohesin complex that ensures proper genome segregation during nuclear division. Long stretches of heterochromatin are almost exclusively placed at centromere-proximal regions but it remains unclear if there is functional (or me...


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