Genetics and Human Cranial Vault Shape: A Reevaluation

The human skull, a complex structure that protects the brain. The question lies on what genetic factor dictates cranial morphology? New shocking evidence was found by researchers at the University of Pittsburgh and KU Leuven that 30 regions of the genome are associated with the shape and structure of the brain. More importantly, 29 of these are new findings that weren't reported prior. Prior research of genes flourished results in rare human conditions. However, lack of awareness was shown on the genetic basis for typical features of the general public.  This awareness will produce enrich results. In addition, the following suggestions paleoanthropology studies, implementing different measures to describe vault shape, and variants in gene association. 
           Among the following suggestions, variants in gene association sheds light on the bigger picture. A discovery of the strong association near genes can dictate different results in formation of the head and skull. This relates to two variants near the gene RUNX2 that could coordinate development of the bone structure of the skull, or having global effects of the cranial vault. Another aspect is three variants BMP2, BBS9 and ZIC2 corresponding to Craniosynostosis. These variants suggest genes could aid in the development. 
        Overall, the human skull is a complex structure. It's clear that unlocking the human genome is a trip down the rabbit hole. As new technologies and methods immerse, more luck in understanding the secrets to be found within the genome that impact the cranial vault.

Links:

https://www.sciencedaily.com/releases/2023/11/231117120657.htm

https://www.nature.com/articles/s41467-023-43237-8#:~:text=The%20cranial%20vault%20in%20humans,genetic%20architecture%20remains%20poorly%20understood

New Study Reveals the Genetics of Human Head Shape

    Researchers from the University of Pittsburgh and KU Leuven have discovered a set of genes that influence head shape in humans. The findings of this study not only help explain the diversity of human head shapes but also help explain the genetic basis of skull conditions like craniosynostosis. Craniosynostosis is a condition where the bones in a skull join together too early while the brain still grows rapidly, as shown below in Figure 1.

Figure 1

This study analyzed measurements of the cranial vault, the part of the skull that encases and protects the brain and forms the rounded top of the head, in over 6,000 adolescents and identified 30 genomic regions associated with different head shapes. 29 of the 30 genomic regions were previously unreported. Researchers used magnetic resonance scans in order to get 3D surfaces/images of the cranial vault. They then divided the 3D vault surfaces into smaller subparts and quantified the shape of those subparts and tested millions of genetic variants to measure the vault shape. 

Strong associations were found near genes that play key roles in the formation of head and face shape and bone development. Variants near the gene RUNX2, for example, were associated with vault shape. Unlike the RUNX2 gene, there are other genes that have a more localized effect on the cranial vault. Despite the research being conducted on healthy participants, the finding may be applicable to those with a skull condition as it may help uncover the biological basis of the disease. The researchers found that variants near the genes BMP2, BBS9, and ZIC2 were associated with craniosynostosis. This suggests that these genes could play a role in the development of craniosynostosis, which could allow for a more in-depth understanding of the process and treatment for this condition. These findings are important as they could be applied to future paleoanthropology studies which could uncover information about the early development of modern humans. It is interesting to see the benefits of this study for not only understanding the past but also for the future. These findings could hopefully offer more clues about conditions and diseases that involve the cranial vault, like craniosynostosis, and help develop more efficient and less invasive treatments for such conditions.

Links:

https://www.sciencedaily.com/releases/2023/11/231117120657.htm

https://www.azolifesciences.com/news/20231120/Insights-Into-the-Genetic-Landscape-of-Human-Head-Shape.aspx

We Evolved from Neanderthals

A study has shown that Developmental cells are the cause for the Domestication and Change in Facial Structure between the once Neanderthals and today's "normal" facial structured Humans, as well as some Humans who have rare genetic disorders from prenatal and postnatal growth. It’s all tied around this one gene that goes by the name of BAZ1B. A scientist has concluded that the lack of this "boss-like" cell to be the main reason for the "Williams-Beuren syndrome". The Neural crest cells show up upon the elemental stage of birth as they migrate into different placements throughout the body.  Rising tissues, altering bone and cartilage placements, pigment cells, and other actions take place when these neural crest cells present there presents.

People who have Williams-Beuren syndrome are known to be more talkative, outgoing and not aggressive in any manner. But on the flip side, there is a disorder that includes that extra BAZ1B crest cell that results in the person having difficulty speaking and tend to come off more aggressive than the norm. They also have a different facial structure, more narrow opposed to the Williams-Beuren syndrome. This disorder is formally known as 7q11.23 Duplication syndrome.  All in all, evolution has allowed us to change in appearance, giving rise to less harsh facial features. Imagine how different human beings would look in the next hundred years compared to how we appear today!

Original link: Gene Tied to Facial Development

How canine skull structure is helping to understand the Human skull development

Research being done at the National Human Genome Research Institute and the National Institutes of Health to discover and understand the defining genes and pathways of skull shape in Humans. Jeffrey J. Schoenebeck, PhD, and Elaine A. Ostrander, PhD, researchers at these institutions who have been working and studying the morphological changes in the skull structure of different canine species, are using data obtained from the dogs in hopes that it will be compatible to humans. The doctors believe that because humans and dogs share much of the same genome, that it is likely the mechanisms which affect skull development in dogs would be similar in humans.



Researchers have just begun to identify the traits that genes that cause pushed in faces in some dogs and elongated snouts in others. Thanks to selective breeding over hundreds of years by humans have lead certain breeds of dogs to be defined by characteristic features, many with uniquely defined skull structures. "Researchers are using genome wide association studies to find the specific loci of the gene of interest that may be associated with these subtle differences." Knowledge of these genes and mechanisms could be especially useful for humans in understanding the causes of certain skull deformities and how to prevent them in the future.

Article:          http://www.sciencedaily.com/releases/2013/02/130208105303.htm

Sub-site:       http://www.independent.co.uk/news/science/scientists-identify-genetic-enhancers-that-control-facial-development-in-mice-8911136.html