Biology subjects

Martins, P. T.

Publications and source records attributed to Martins, P. T..

3 recordsLinked to original sources

bioRxiv2019

7q11.23 Syndromes Reveal BAZ1B as a Master Regulator of the Modern Human Face and Validate the Self-Domestication Hypothesis

Symmetrical 7q11.23 dosage alterations cause craniofacial and cognitive/behavioral phenotypes that provide a privileged entry point into the evolution of the modern human face and (pro-) sociality. We undertook a functional dissection of chromatin remodeler BAZ1B in neural crest stem cells (NCSCs) from a uniquely informative cohort of typical and atypical patients harboring 7q11.23 Copy Number Variants (CNVs). Our results reveal a key contribution of BAZ1B to NCSC in vitro induction and migration, coupled with a crucial involvement in neural crest (NC)-specific transcriptional circuits and distal regulation. By intersecting our experimental data with new paleogenetic analyses comparing modern and archaic humans, we uncover a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, thereby providing the first empirical validation of the self-domestication hypothesis and positioning BAZ1B as a master regulator of the modern human face.\n\nOne Sentence SummaryBAZ1B dosage shapes the modern human face.

evolutionary biology↗

bioRxiv2017

SRGAP2 And The Gradual Evolution Of The Modern Human Language Faculty

In this paper we examine a new source of evidence that draws on data from archaic human genomes to support the hypothesis that vocal learning in Homo preceded the emergence of Anatomically Modern Humans. We build our claim on the evolutionary history of the SLITROBO GTPase 2 gene (SRGAP2). The SLIT-ROBO molecular pathway has been shown to have an important role in the context of vocal learning. Though the relevance of the SRGAP2 gene duplication in the emergence of some aspect of language has not gone completely unnoticed, recent results now allow us to articulate a mechanistic hypothesis of its role in the context of axon guidance. Specifically, SRGAP2C, a duplication of SRGAP2 crucially also found in Neanderthals and Denisovans, but not in extant mammals, inhibits the ancestral SRGAP2A, which in turn modulates the axon guidance function of the SLIT-ROBO molecular pathway. This, we claim, could have contributed to the establishment of the critical cortico-laryngeal connection of the vocal learning circuit. Our conclusions support the idea that complex vocal learning could already have been part of the arsenal of some of our extinct ancestors.

genetics↗

bioRxiv2017

Comparative Genomic Evidence For Self-Domestication In Homo sapiens

This study identifies and analyzes statistically significant overlaps between selective sweep screens in anatomically modern humans and several domesticated species. The results obtained suggest that (paleo-) genomic data can be exploited to complement the fossil record and support the idea of self-domestication in Homo sapiens, a process that likely intensified as our species populated its niche. Our analysis lends support to attempts to capture the \"domestication syndrome\" in terms of alterations to certain signaling pathways and cell lineages, such as the neural crest.

genomics↗