The accurate and complete assembly of both haplotype sequences of a diploid organism is essential to understanding the role of variation in genome functions, phenotypes and diseases. Here, using a trio-binning approach, we present a high-quality, diploid reference genome, with both haplotypes assembled independently at the chromosome level, for the common marmoset (Callithrix jacchus), an primate model system that is widely used in biomedical research. The full spectrum of heterozygosity between the two haplotypes involves 1.36% of the genome-much higher than the 0.13% indicated by the standard estimation based on single-nucleotide heterozygosity alone. The de novo mutation rate is 0.43 × 10 per site per generation, and the paternal inherited genome acquired twice as many mutations as the maternal. Our diploid assembly enabled us to discover a recent expansion of the sex-differentiation region and unique evolutionary changes in the marmoset Y chromosome. In addition, we identified many genes with signatures of positive selection that might have contributed to the evolution of Callithrix biological features. Brain-related genes were highly conserved between marmosets and humans, although several genes experienced lineage-specific copy number variations or diversifying selection, with implications for the use of marmosets as a model system.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8189906PMC
http://dx.doi.org/10.1038/s41586-021-03535-xDOI Listing

Publication Analysis

Top Keywords

model system
8
evolutionary biomedical
4
biomedical insights
4
insights marmoset
4
diploid
4
marmoset diploid
4
genome
4
diploid genome
4
genome assembly
4
assembly accurate
4

Similar Publications

Epidemiology, trends, and disparities in maternal mortality: A framework for obstetric anesthesiologists.

Best Pract Res Clin Anaesthesiol

September 2024

Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, CWN L1, Boston, MA, 02115, USA. Electronic address:

Since 2015, reductions in maternal mortality have stalled globally. In some parts of the world, severe maternal morbidity and mortality have increased, and most cases are thought to be from preventable causes. This is further exacerbated by significant racial, ethnic, and geographic disparities in maternal health outcomes, particularly among countries with diverse populations.

View Article and Find Full Text PDF

The accurate non-invasive detection and estimation of central aortic pressure waveforms (CAPW) are crucial for reliable treatments of cardiovascular system diseases. But the accuracy and practicality of current estimation methods need to be improved. Our study combines a meta-learning neural network and a physics-driven method to accurately estimate CAPW based on personalized physiological indicators.

View Article and Find Full Text PDF

Wearable Fluidic Fabric with Excellent Heat Transfer Performance for Sports Recovery.

Adv Sci (Weinh)

January 2025

Research Institute for Intelligent Wearable Systems, School of Fashion and Textiles, The Hong Kong Polytechnic University, Kowloon, 999077, China.

Rapid temperature contrast hydrotherapy by water immersion has been utilized by athletes for effective sports recovery. However, its application at some training or competition venues is limited by high water consumption, bucky size, personal hygiene, and inconvenience. Here, a novel portable system equipped with highly effective, lightweight, and hygienic wearable fluidic fabric device is reported, that replaces direct water immersion.

View Article and Find Full Text PDF

Incidence of fall-from-height injuries and predictive factors for severity.

J Osteopath Med

January 2025

McAllen Department of Trauma, South Texas Health System, McAllen, TX, USA.

Context: The injuries caused by falls-from-height (FFH) are a significant public health concern. FFH is one of the most common causes of polytrauma. The injuries persist to be significant adverse events and a challenge regarding injury severity assessment to identify patients at high risk upon admission.

View Article and Find Full Text PDF

Attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric condition among children and adolescents, often associated with a high risk of psychiatric comorbidities. Currently, ADHD diagnosis relies exclusively on clinical presentation and patient history, underscoring the need for clinically relevant, reliable, and objective biomarkers. Such biomarkers may enable earlier diagnosis and lead to improved treatment outcomes.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!