18 Result(s)
within
Jennifer L. Gerton
English
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Article
Open AccessThe complete sequence and comparative analysis of ape sex chromosomes
Apes possess two sex chromosomes—the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked ...
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Article
Open AccessThe variation and evolution of complete human centromeres
Human centromeres have been traditionally very difficult to sequence and assemble owing to their repetitive nature and large size1. As a result, patterns of human centromeric variation and models for their evolut...
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Article
Open AccessDefining a core configuration for human centromeres during mitosis
The centromere components cohesin, CENP-A, and centromeric DNA are essential for biorientation of sister chromatids on the mitotic spindle and accurate sister chromatid segregation. Insight into the 3D organiz...
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Article
The complete sequence of a human Y chromosome
The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1–3. As a result, mo...
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Article
Open AccessRecombination between heterologous human acrocentric chromosomes
The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications1,2. Although the resolution of...
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Article
Open AccessSemi-automated assembly of high-quality diploid human reference genomes
The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society1,2. However, it still has many gaps and errors, and does not repres...
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Chapter
Nucleolar Organizer Regions as Transcription-Based Scaffolds of Nucleolar Structure and Function
Eukaryotic genomes maintain multiple copies of ribosomal DNA gene repeats in tandem arrays to provide sufficient ribosomal RNAs to make ribosomes. These DNA repeats are the most highly transcribed regions of t...
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Article
Open AccessThe structure, function and evolution of a complete human chromosome 8
The complete assembly of each human chromosome is essential for understanding human biology and evolution1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human c...
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Article
Open AccessTelomere-to-telomere assembly of a complete human X chromosome
After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and...
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Article
Ribosomal DNA-connecting ribosome biogenesis and chromosome biology
Ribosomal DNA, the topic of this special issue, has long fascinated biologists. The RNA products of the ribosomal DNA are the ribosomal RNAs that are part of the ribosome. In this special issue, we focus on th...
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Article
Ribosomal DNA and the nucleolus in the context of genome organization
The nucleolus constitutes a prominent nuclear compartment, a membraneless organelle that was first documented in the 1830s. The fact that specific chromosomal regions were present in the nucleolus was recogniz...
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Article
Ribosomal DNA instability and genome adaptability
Ribosomes are large, multi-subunit ribonucleoprotein complexes, essential for protein synthesis. To meet the high cellular demand for ribosomes, all eukaryotes have numerous copies of ribosomal DNA (rDNA) gene...
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Article
Regulation of kinetochore configuration during mitosis
Successful proliferation and function of an organism relies on the equal segregation of its genetic material during cell division. Duplicate sister chromatids need to accurately segregate at mitosis. Precise s...
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Article
Integrative structure and functional anatomy of a nuclear pore complex
Nuclear pore complexes play central roles as gatekeepers of RNA and protein transport between the cytoplasm and nucleoplasm. However, their large size and dynamic nature have impeded a full structural and func...
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Protocol
Using Fluorescent Reporters in Conjunction with Cytometry and Statistics to Assess Nuclear Accumulation of Ribosomal Proteins
Fluorescently labeled ribosomal proteins can be used to detect and monitor the intracellular localization of these proteins. Both Rps2, a subunit of the 40S ribosome, and Rpl25, a subunit of the 60S ribosome, ...
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Article
Open AccessImproved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome
Roberts syndrome (RBS) is a human developmental disorder caused by mutations in the cohesin acetyltransferase ESCO2. We previously reported that mTORC1 signaling was depressed and overall translation was reduc...
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Article
Open AccessIntersection of ChIP and FLIP, genomic methods to study the dynamics of the cohesin proteins
The evolutionarily conserved cohesin proteins Smc1, Smc3, Rad21 (Mcd1), and Scc3 function in the cohesin complex that provides the basis for chromosome cohesion and is involved in gene regulation. Understandin...
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Article
Homologous chromosome interactions in meiosis: diversity amidst conservation
One of the unique aspects of meiosis is the pairing and exchange of information between homologous chromosomes.
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