Next Article in Journal
A Premature Stop Codon in RAF1 Is the Priority Candidate Causative Mutation of the Inherited Chicken Wingless-2 Developmental Syndrome
Next Article in Special Issue
On the Population Dynamics of Junk: A Review on the Population Genomics of Transposable Elements
Previous Article in Journal
De Novo Assembly and Comparative Transcriptome Profiling of Anser anser and Anser cygnoides Geese Species’ Embryonic Skin Feather Follicles
Previous Article in Special Issue
Integrative rDNAomics—Importance of the Oldest Repetitive Fraction of the Eukaryote Genome
Review

Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population

UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, CA 95064, USA
Genes 2019, 10(5), 352; https://doi.org/10.3390/genes10050352
Received: 2 April 2019 / Revised: 3 May 2019 / Accepted: 3 May 2019 / Published: 8 May 2019
(This article belongs to the Special Issue Repetitive DNA Sequences)
The central goal of medical genomics is to understand the inherited basis of sequence variation that underlies human physiology, evolution, and disease. Functional association studies currently ignore millions of bases that span each centromeric region and acrocentric short arm. These regions are enriched in long arrays of tandem repeats, or satellite DNAs, that are known to vary extensively in copy number and repeat structure in the human population. Satellite sequence variation in the human genome is often so large that it is detected cytogenetically, yet due to the lack of a reference assembly and informatics tools to measure this variability, contemporary high-resolution disease association studies are unable to detect causal variants in these regions. Nevertheless, recently uncovered associations between satellite DNA variation and human disease support that these regions present a substantial and biologically important fraction of human sequence variation. Therefore, there is a pressing and unmet need to detect and incorporate this uncharacterized sequence variation into broad studies of human evolution and medical genomics. Here I discuss the current knowledge of satellite DNA variation in the human genome, focusing on centromeric satellites and their potential implications for disease. View Full-Text
Keywords: satellite DNA; centromere; sequence variation; structural variation; repeat; alpha satellite; human satellites; genome assembly satellite DNA; centromere; sequence variation; structural variation; repeat; alpha satellite; human satellites; genome assembly
Show Figures

Figure 1

MDPI and ACS Style

Miga, K.H. Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population. Genes 2019, 10, 352. https://doi.org/10.3390/genes10050352

AMA Style

Miga KH. Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population. Genes. 2019; 10(5):352. https://doi.org/10.3390/genes10050352

Chicago/Turabian Style

Miga, Karen H. 2019. "Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population" Genes 10, no. 5: 352. https://doi.org/10.3390/genes10050352

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop