Nuclear Lamins in Mammalian Spermatogenesis

Alsheimer, Manfred; Jahn, Daniel; Schramm, Sabine; Benavente, Ricardo

doi:10.1007/978-3-642-14773-9_12

Cited by 5 publications

(4 citation statements)

References 36 publications

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“…MLH3 antibody detects two different bands of similar molecular weight, indicating possible protein modification. Two isoforms of SYCP3 exist in the mouse, with the longer form a consequence of N-terminal extension (Alsheimer et al, 2010). Both isoforms of SYCP3 are present in leptotene-through diplotene-enriched fractions.…”

Section: Meiotic Proteinsmentioning

confidence: 99%

Cyclin N-Terminal Domain-Containing-1 Coordinates Meiotic Crossover Formation with Cell-Cycle Progression in a Cyclin-Independent Manner

et al. 2020

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Section: Meiotic Proteinsmentioning

confidence: 99%

Cyclin N-Terminal Domain-Containing-1 Coordinates Meiotic Crossover Formation with Cell-Cycle Progression in a Cyclin-Independent Manner

et al. 2020

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“…This remodeling is reflected in the composition of the meiotic lamina, where the meiosis specific A-type lamin C2 is the only A-type lamin expressed besides the ubiquitously expressed B-type lamin, lamin B1. 32,60,61 Compared to its somatic counterparts, lamin C2 is an N-terminally truncated isoform, missing the globular head and the N-terminal part of the central coiledcoil domain. These domains are replaced by a unique hexapeptide sequence required for its targeting to the NE.…”

Section: Adaptations Of the Nuclear Envelope To Facilitate Meiotic Chromosome Movementsmentioning

confidence: 99%

Structural and functional adaptations of the mammalian nuclear envelope to meet the meiotic requirements

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Jahn

Alsheimer

2015

Nucleus

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Numerous studies in the past years provided definite evidence that the nuclear envelope is much more than just a simple barrier. It rather constitutes a multifunctional platform combining structural and dynamic features to fulfill many fundamental functions such as chromatin organization, regulation of transcription, signaling, but also structural duties like maintaining general nuclear architecture and shape. One additional and, without doubt, highly impressive aspect is the recently identified key function of selected nuclear envelope components in driving meiotic chromosome dynamics, which in turn is essential for accurate recombination and segregation of the homologous chromosomes. Here, we summarize the recent work identifying new key players in meiotic telomere attachment and movement and discuss the latest advances in our understanding of the actual function of the meiotic nuclear envelope.

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“…The CE together with the TFs constitute the SC central region (CR). So far, eight different SC protein components have been identified, including LE proteins SYCP3 [19,20] and SYCP2 [21][22][23], TF constituent SYCP1 [24][25][26], and CE components SYCE1, SYCE2, SYCE3, TEX12, and SIX6OS [27][28][29][30].…”

Section: Introductionmentioning

confidence: 99%

Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice

Hernández-López

Geisinger

Trovero

et al. 2020

Molecular Human Reproduction

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Abstract More than 50% of cases of primary ovarian insufficiency (POI) and nonobstructive azoospermia in humans are classified as idiopathic infertility. Meiotic defects may relate to at least some of these cases. Mutations in genes coding for synaptonemal complex (SC) components have been identified in humans, and hypothesized to be causative for the observed infertile phenotype. Mutation SYCE1 c.721C>T (former c.613C>T)—a familial mutation reported in two sisters with primary amenorrhea—was the first such mutation found in an SC central element component-coding gene. Most fundamental mammalian oogenesis events occur during the embryonic phase, and eventual defects are identified many years later, thus leaving few possibilities to study the condition’s etiology and pathogenesis. Aiming to validate an approach to circumvent this difficulty, we have used the CRISPR/Cas9 technology to generate a mouse model with an SYCE1 c.721C>T equivalent genome alteration. We hereby present the characterization of the homozygous mutant mice phenotype, compared to their wild type and heterozygous littermates. Our results strongly support a causative role of this mutation for the POI phenotype in human patients, and the mechanisms involved would relate to defects in homologous chromosome synapsis. No SYCE1 protein was detected in homozygous mutants and Syce1 transcript level was highly diminished, suggesting transcript degradation as the basis of the infertility mechanism. This is the first report on the generation of a humanized mouse model line for the study of an infertility-related human mutation in an SC component-coding gene, thus representing a proof of principle.

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Nuclear Lamins in Mammalian Spermatogenesis

Cited by 5 publications

References 36 publications

Cyclin N-Terminal Domain-Containing-1 Coordinates Meiotic Crossover Formation with Cell-Cycle Progression in a Cyclin-Independent Manner

Cyclin N-Terminal Domain-Containing-1 Coordinates Meiotic Crossover Formation with Cell-Cycle Progression in a Cyclin-Independent Manner

Structural and functional adaptations of the mammalian nuclear envelope to meet the meiotic requirements

Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice

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