Jeff Spence
@jeffspence.github.io did:plc:mbx6k46ddyofdsqip5723wir
assistant professor at ucsf interested in genetics, statistics, etc… jeffspence.github.io
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Jeff Spence (@jeffspence.github.io) es un usuario de Bluesky que se unió el 11 noviembre 2024. Tiene 1.285 seguidores, sigue a 920 cuentas y ha publicado 210 posts.
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To conclude, results are mixed but lean into few to no functional differences in the DHEAS pathway between Neanderthals and H. sapiens, which supports both exhibiting similar extended childhoods. This complements our understanding of Neanderthals as highly social and culturally complex humans.
Ver postWe found a three SNVs with reported clinical effects: rs296361 and rs296360 are associated with reduced SULT2A1 expression. rs17115125 is associated with CYP17A1 enzyme deficiency in adults. These are very minor effects but do show Neanderthal variants CAN affect hormone production in living people.
Ver postWe looked at introgression into the modern human gene pool for two reasons: 1) Neanderthal SNVs in humans can cause medical differences that show up in clinical databases, and 2) Natural selection is expected to purge Neanderthal variants if they work differently than their H. sapiens counterparts.
Ver postWe identified 29 Neanderthal-derived SNVs among these 5 genes: 2 upstream and 27 in the coding regions. However, none of these alter the aminoacid composition of any of the five proteins coded by these genes. This is expected among closely related species, but we looked at introgression to get more.
Ver postWe looked at the five genes in the DHEAS pathway, the precursor for testosterone and estrogen: HSD3B2, CYP17A1, POR, CYB5A, and SULT2A1. We characterized any Neanderthal-unique variation in the coding regions and upstream cis-regulatory regions. We also looked at introgression into H. sapiens.
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