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A common inversion segregating in human populations reminds us of the complex interactions between different levels of genomic diversity, from single nucleotide variants to large-scale genomic rearrangements. These rearrangements are of special interest when they bear the mark of natural selection.
Telomeres cap the ends of linear chromosomes and prevent them from being recognized as double-strand breaks needing repair. How they go about hiding the ends from the DNA-repair apparatus is becoming a broader question, as a new study identifies an increasingly incestuous relationship between DNA-repair factors and telomere-binding proteins.
Admixture mapping is an old concept that has only now been applied with markers across the entire genome. Such a study scanning an African American population identified two chromosomal regions affecting susceptibility to hypertension.
Random monoallelic expression is known to affect a variety of autosomal genes involved in specifying cell identity. Now, the neuronally expressed protocadherins can be added to this list.