Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico

Maga, A. Murat; Navarro, Nicolas; Cunningham, Michael L.; Cox, Timothy C.

doi:10.3389/fphys.2015.00092

Cited by 55 publications

(68 citation statements)

References 73 publications

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“…In mice, whole-genome QTL studies have identified numerous genetic regions associated with craniofacial traits 31–33 . In humans, both candidate gene 10,34,35 and GWAS 2–7 have implicated specific variants.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide mapping of global-to-local genetic effects on human facial shape

et al. 2018

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Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation, while preserving statistical power. In a sample of 2,329 persons of European ancestry we identified 38 loci, 15 of which replicated in an independent European sample (n=1,719). Four loci were completely novel. For the others, additional support (n=9) or pleiotropic effects (n=2) were found in the literature, but the results reported here were further refined. All 15 replicated loci revealed distinctive patterns of global-to-local genetic effects on facial shape and showed enrichment for active chromatin elements in human cranial neural crest cells, suggesting an early developmental origin of the facial variation captured. These results have implications for studies of facial genetics and other complex morphological traits.

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Section: Discussionmentioning

confidence: 99%

Genome-wide mapping of global-to-local genetic effects on human facial shape

et al. 2018

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“…; Maga et al . ), and skull shape is also known to show considerable plasticity during development (Gonzalez et al . ; Noback & Harvati ).…”

Section: From Phenotype To Genotypementioning

confidence: 99%

Natural history collections as windows on evolutionary processes

et al. 2016

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Natural history collections provide an immense record of biodiversity on Earth. These repositories have traditionally been used to address fundamental questions in biogeography, systematics, and conservation. However, they also hold the potential for studying evolution directly. While some of the best direct observations of evolution have come from long-term field studies or from experimental studies in the lab, natural history collections are providing new insights into evolutionary change in natural populations. By comparing phenotypic and genotypic changes in populations through time, natural history collections provide a window into evolutionary processes. Recent studies utilizing this approach have revealed some dramatic instances of phenotypic change over short time scales in response to presumably strong selective pressures. In some instances evolutionary change can be paired with environmental change, providing a context for potential selective forces. Moreover, in a few cases, the genetic basis of phenotypic change is well understood, allowing for insight into adaptive change at multiple levels. These kinds of studies open the door to a wide range of previously intractable questions by enabling the study of evolution through time, analogous to experimental studies in the laboratory, but amenable to a diversity of species over longer timescales in natural populations.

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“…However, to date, there are no studies addressing the genetic basis of natural craniofacial differences between the subspecies of the house mouse (but see Burgio et al (2009);Burgio et al (2012) for an approach using inbred lines of M. musculus and Mus spretus). In contrast, the genetic factors underlying differences between traditional inbred lines (i.e., LG/J, SM/J, A/J, and B6) have been extensively studied (Cheverud et al 1997;Leamy et al 1999;Klingenberg et al 2004;Wolf et al 2005;Burgio et al 2009;Maga et al 2015).…”

Section: Communicated By Nico Posnien and Nikola-michael Prpicmentioning

confidence: 99%

Craniofacial shape transition across the house mouse hybrid zone: implications for the genetic architecture and evolution of between-species differences

Pallares

Turner

Tautz

2016

Preprint

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Craniofacial shape differences between taxa have often been linked to environmental adaptation, e.g., new food sources, or have been studied in the context of domestication. Evidence for the genetic basis of such phenotypic differences to date suggests that between-species as well as betweenpopulation variation has an oligogenic basis, i.e., few loci of large effect explain most of the variation. In mice, it has been shown that within-population craniofacial variation has a highly polygenic basis, but there are no data regarding the genetic basis of between-species differences in natural populations. Here, we address this question using a phenotypefocused approach. Using 3D geometric morphometrics, we phenotyped a panel of mice derived from a natural hybrid zone between Mus musculus domesticus and Mus mus musculus and quantify the transition of craniofacial shape along the hybridization gradient. We find a continuous shape transition along the hybridization gradient and unaltered developmental stability associated with hybridization. This suggests that the morphospace between the two subspecies is continuous despite reproductive isolation and strong barriers to gene flow. We show that quantitative changes in overall genome composition generate quantitative changes in craniofacial shape; this supports a highly polygenic basis for between-species craniofacial differences in the house mouse. We discuss our findings in the context of oligogenic versus polygenic models of the genetic architecture of morphological traits.

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Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico

Cited by 55 publications

References 73 publications

Genome-wide mapping of global-to-local genetic effects on human facial shape

Genome-wide mapping of global-to-local genetic effects on human facial shape

Natural history collections as windows on evolutionary processes

Craniofacial shape transition across the house mouse hybrid zone: implications for the genetic architecture and evolution of between-species differences

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