Modern humans display a great diversity of physical appearance, in part as a result of ancient selection for adaptation to new environments. Much of this diversity is at the level of skin characteristics, such as skin colour and hair type. As genes often have multiple functions, these differences in the skin can be accompanied by changes to other parts of the anatomy.
EDAR is a cell surface receptor that is important for the development of a range of skin structures. While abolition of the function of this gene is rare and causes an inherited ectodermal dysplasia condition, other variations of this gene are more common due to their evolutionary selection in prehistory. Studies to date show that these common variants explain human variation in facial features, hair type and skin structure (Adhikari et al. 2015 and accepted), and can be modelled in the mouse to understand human biology (Mou et al., 2008).
This project will uncover the means of regulation of EDAR expression, genetic variation in this regulation in the human population, and the consequences of altered EDAR expression. The successful candidate will generate new gene edited cell lines and assess the resulting alterations to EDAR gene regulation, and identify the transcription factors that are responsible for this transcriptional control. Hair and skin structure, as well as gene expression changes, will be determined in mouse lines. This will contribute to an understanding of how gene regulatory variation can contribute to human phenotypic variation.
Training will include use of CRISPR/Cas9 mediated gene editing, histology and animal phenotyping, and cell culture, providing the successful candidate with opportunities for a career in evolution, human genetics, pathology or developmental biology.
Applications including a statement of interest and full CV with names and addresses (including email addresses) of two academic referees, should be sent to: Liz Archibald, The Roslin Institute, The University of Edinburgh, Easter Bush, Midlothian, EH25 9RG or emailed to RDSVS.PGR.Admin@ed.ac.uk.
When applying for the studentship please state clearly the title of the studentship and the supervisor/s in your covering letter.
All applicants should also apply through the University’s on-line application system for September 2016 entry via http://www.ed.ac.uk/studying/postgraduate/degrees/index.php?r=site/view&id=829
International students should also apply for an Edinburgh Global Research Studentship (http://www.ed.ac.uk/schools-departments/student-funding/postgraduate/international/global/research).
ALL APPLICATION PROCEDURES MUST BE COMPLETED BY THE CLOSING DATE 1st FEBRUARY 2016
Adhikari K, Cal S, Fontanil-López T, Fuentes M, Al-Saadi F, Mendoza-Revilla J, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Pizarro M, Lozano RB, Pérez GM, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, Ruiz-Linares A. The genetic basis of variation in facial and scalp hair: A genome-wide association scan in admixed Latin Americans. Accepted
Adhikari K, Reales G, Smith AJ, Konka E, Palmen J, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Fuentes M, Pizarro M, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Calderón R, Rosique J, Cheeseman M, Bhutta MF, Humphries SE, Gonzalez-José R, Headon D, Balding D, Ruiz-Linares A. A genome-wide association study identifies multiple loci for variation in human ear morphology. Nature Communications. 2015 6:7500.
Mou C, Thomason HA, Willan PM, Clowes C, Harris WE, Drew CF, Dixon J, Dixon MJ, Headon DJ. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. Human Mutation. 2008 12:1405-11.