Thousands of human mobile element fragments undergo strong purifying selection near developmental genes

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Supplement: Thousands of human mobile element fragments undergo strong purifying selection near developmental genes

S1 pan-boreoeutherian mobile elements Mobile elements, as annotated by Repbase [1] and RepeatMasker [2], have a hierarchical naming convention where they are first broken down into classes, then families, and finally subfamilies. In the main text we define “pan-boreoeutherian” subfamilies to be the subfamilies that are present in primates (human, chimp, or rhesus), rodents (rat or mouse), and c...

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Thousands of human mobile element fragments undergo strong purifying selection near developmental genes.

At least 5% of the human genome predating the mammalian radiation is thought to have evolved under purifying selection, yet protein-coding and related untranslated exons occupy at most 2% of the genome. Thus, the majority of conserved and, by extension, functional sequence in the human genome seems to be nonexonic. Recent work has highlighted a handful of cases where mobile element insertions h...

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Strong purifying selection at genes escaping X chromosome inactivation.

To achieve dosage balance of X-linked genes between mammalian males and females, one female X chromosome becomes inactivated. However, approximately 15% of genes on this inactivated chromosome escape X chromosome inactivation (XCI). Here, using a chromosome-wide analysis of primate X-linked orthologs, we test a hypothesis that such genes evolve under a unique selective pressure. We find that es...

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Similarly Strong Purifying Selection Acts on Human Disease Genes of All Evolutionary Ages

A number of studies have showed that recently created genes differ from the genes created in deep evolutionary past in many aspects. Here, we determined the age of emergence and propensity for gene loss (PGL) of all human protein-coding genes and compared disease genes with non-disease genes in terms of their evolutionary rate, strength of purifying selection, mRNA expression, and genetic redun...

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Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

There is an intense debate concerning whether selection or demographics has been most important in shaping the sequence variation observed in modern human mitochondrial DNA (mtDNA). Purifying selection is thought to be important in shaping mtDNA sequence evolution, but the strength of this selection has been debated, mainly due to the threshold effect of pathogenic mtDNA mutations and an observ...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2007

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.0611223104