DNA phenotyping: current application in forensic science

References

• Butler JM. Forensic DNA Typing: Biology, Technology, and Genetics of STR Markers. 2nd ed. Amsterdam, Boston: Elsevier Academic Press; 2005.
   Google Scholar
• Goodwin W, Linacre A, Hadi S. An Introduction to Forensic Genetics. 2nd ed. Chichester, West Sussex, UK: Wiley-Blackwell; 2011.
   Google Scholar
• Bond JW. Value of DNA evidence in detecting crime. J Forensic Sci. 2007;52(1):128–136.
   PubMed Web of Science ®Google Scholar
• Budowle B, Bieber FR, Eisenberg AJ. Forensic aspects of mass disasters: strategic considerations for DNA-based human identification. Leg Med (Tokyo). 2005;7(4):230–243.
   PubMedGoogle Scholar
• Walsh SJ. Recent advances in forensic genetics. Expert Rev Mol Diagn. 2004;4(1):31–40.
   PubMed Web of Science ®Google Scholar
• Branicki W, Brudnik U, Kupiec T, Wolañska-Nowak P, Wojas-Pelc A. Determination of phenotype associated SNPs in the MC1R gene. J Forensic Sci. 2007;52(2):349–354.
   Web of Science ®Google Scholar
• Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004;20(8):327–332.
   PubMed Web of Science ®Google Scholar
• Walsh S, Liu F, Ballantyne KN, van Oven M, Lao O, Kayser M. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci Int Genet. 2011;5(3):170–180.
   PubMed Web of Science ®Google Scholar
• Dembinski GM, Picard CJ. Evaluation of the IrisPlex DNA-based eye color prediction assay in a United States population. Forensic Sci Int Genet. 2014;9:111–117.
   Web of Science ®Google Scholar
• Kastelic V, Pośpiech E, Draus-Barini J, Branicki W, Drobnič K. Prediction of eye color in the Slovenian population using the IrisPlex SNPs. Croat Med J. 2013;54(4):381–386.
   PubMed Web of Science ®Google Scholar
• Pietroni C, Andersen JD, Johansen P, et al. The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model. Forensic Sci Int Genet. 2014;11:1–6.
   Web of Science ®Google Scholar
• Pośpiech E, Karłowska-Pik J, Ziemkiewicz B, et al. Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics. Int J Legal Med. 2016;130(4):923–934.
   Web of Science ®Google Scholar
• Ruiz Y, Phillips C, Gomez-Tato A, et al. Further development of forensic eye color predictive tests. Forensic Sci Int Genet. 2013;7(1):28–40.
   PubMed Web of Science ®Google Scholar
• Yun L, Gu Y, Rajeevan H, Kidd KK. Application of six IrisPlex SNPs and comparison of two eye color prediction systems in diverse Eurasia populations. Int J Legal Med. 2014;128(3):447–453.
   PubMed Web of Science ®Google Scholar
• Walsh S, Lindenbergh A, Zuniga SB, et al. Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence. Forensic Sci Int Genet. 2011;5(5):464–471.
   PubMed Web of Science ®Google Scholar
• Walsh S, Liu F, Wollstein A, et al. The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA. Forensic Sci Int Genet. 2013;7(1):98–115.
   PubMed Web of Science ®Google Scholar
• Chaitanya L, Breslin K, Zuñiga S, et al. The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: introduction and forensic developmental validation. Forensic Sci Int Genet. 2018;35:123–135.
   PubMed Web of Science ®Google Scholar
• Pośpiech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W. Gene-gene interactions contribute to eye colour variation in humans. J Hum Genet. 2011;56(6):447–455.
   Web of Science ®Google Scholar
• Sulem P, Gudbjartsson DF, Stacey SN, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007;39(12):1443–1452.
   PubMed Web of Science ®Google Scholar
• Martinez-Cadenas C, Peña-Chilet M, Ibarrola-Villava M, Ribas G. Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model. Forensic Sci Int Genet. 2013;7(4):453–460.
   Web of Science ®Google Scholar
• Gerstenblith MR, Goldstein AM, Fargnoli MC, Peris K, Landi MT. Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat. 2007;28(5):495–505.
   Web of Science ®Google Scholar
• Rees JL. Genetics of hair and skin color. Annu Rev Genet. 2003;37(1):67–90.
   Google Scholar
• Frost P. European hair and eye color: a case of frequency-dependent sexual selection? Evol Hum Behav. 2006;27(2):85–103.
   Web of Science ®Google Scholar
• Branicki W, Liu F, van Duijn K, et al. Model-based prediction of human hair color using DNA variants. Hum Genet. 2011;129(4):443–454.
   PubMed Web of Science ®Google Scholar
• Walsh S, Chaitanya L, Clarisse L, et al. Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage. Forensic Sci Int Genet. 2014;9:150–161.
   PubMed Web of Science ®Google Scholar
• Kukla-Bartoszek M, Pośpiech E, Spólnicka M, et al. Investigating the impact of age-depended hair colour darkening during childhood on DNA-based hair colour prediction with the HIrisPlex system. Forensic Sci Int Genet. 2018;36:26–33.
   PubMed Web of Science ®Google Scholar
• Jablonski NG, Chaplin G. The colours of humanity: the evolution of pigmentation in the human lineage. Philos Trans R Soc Lond B Biol Sci. 2017;372(1724):20160349.
   Web of Science ®Google Scholar
• Maroñas O, Phillips C, Söchtig J, et al. Development of a forensic skin colour predictive test. Forensic Sci Int Genet. 2014;13:34–44.
   Web of Science ®Google Scholar
• Liu F, Visser M, Duffy DL, et al. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet. 2015;134(8):823–835.
   PubMed Web of Science ®Google Scholar
• de Araújo Lima F, de Toledo Gonçalves F, Fridman C. SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes. Leg Med (Tokyo). 2015;17(4):261–266.
   Web of Science ®Google Scholar
• Cerqueira CC, Hünemeier T, Gomez-Valdés J, et al. Implications of the admixture process in skin color molecular assessment. PLoS One. 2014;9(5):e96886.
   Web of Science ®Google Scholar
• Fracasso NCA, de Andrade ES, Wiezel CEV, et al. Haplotypes from the SLC45A2 gene are associated with the presence of Freckles and eye, hair and skin pigmentation in Brazil. Leg Med (Tokyo). 2017;25:43–51.
   Web of Science ®Google Scholar
• Wood AR, Esko T, Yang J, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet. 2014;46(11):1173–1186.
   PubMed Web of Science ®Google Scholar
• Lango Allen H, Estrada K, Lettre G, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010;467(7317):832–838.
   PubMed Web of Science ®Google Scholar
• Gudbjartsson DF, Walters GB, Thorleifsson G, et al. Many sequence variants affecting diversity of adult human height. Nat Genet. 2008;40(5):609–615.
   PubMed Web of Science ®Google Scholar
• Lettre G, Jackson AU, Gieger C, et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet. 2008;40(5):584–591.
   PubMed Web of Science ®Google Scholar
• Weedon MN, Lango H, Lindgren CM, et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet. 2008;40(5):575–583.
   PubMed Web of Science ®Google Scholar
• Guo MH, Hirschhorn JN, Dauber A. Insights and implications of genome wide association studies of height. J Clin Endocrinol Metab. 2018;103(9):3155–3168.
   Web of Science ®Google Scholar
• Liu F, Hendriks AE, Ralf A, et al. Common DNA variants predict tall stature in Europeans. Hum Genet. 2014;133(5):587–597.
   PubMed Web of Science ®Google Scholar
• Argente J. Challenges in the management of short stature. Horm Res Paediatr. 2016;85(1):2–10.
   Web of Science ®Google Scholar
• Liu F, van der Lijn F, Schurmann C, et al. A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet. 2012;8(9):e1002932.
   Web of Science ®Google Scholar
• Paternoster L, Zhurov AI, Toma AM, et al. Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. Am J Hum Genet. 2012;90(3):478–485.
   Web of Science ®Google Scholar
• Claes P, Hill H, Shriver MD. Toward DNA-based facial composites: preliminary results and validation. Forensic Sci Int Genet. 2014;13:208–216.
   Web of Science ®Google Scholar
• Fagertun J, Wolffhechel K, Pers TH, et al. Predicting facial characteristics from complex polygenic variations. Forensic Sci Int Genet. 2015;19:263–268.
   Web of Science ®Google Scholar
• Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, et al. A genome-wide association scan implicates DCHS2, Runx2, Gli3, Pax1 and EDAR in human facial variation. Nat Commun. 2016;7(1):11616.
   Google Scholar
• Nyholt DR, Na G, Heath AC, Martin NG. Genetic basis of male pattern baldness. J Invest Dermatol. 2003;121(6):1561–1564.
   PubMed Web of Science ®Google Scholar
• Marcińska M, Pośpiech E, Abidi S, et al. Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness. PLoS One. 2015;10(5):e0127852.
   Web of Science ®Google Scholar
• Vidaki A, Kayser M. Recent progress, methods and perspectives in forensic epigenetics. Forensic Sci Int Genet. 2018;37:180–195.
   PubMed Web of Science ®Google Scholar
• Jones MJ, Goodman SJ, Kobor MS. DNA methylation and healthy human aging. Aging Cell. 2015;14(6):924–932.
   PubMed Web of Science ®Google Scholar
• Hong SR, Jung SE, Lee EH, Shin KJ, Yang WI, Lee HY. DNA methylation-based age prediction from saliva: high age predictability by combination of 7 CpG markers. Forensic Sci Int Genet. 2017;29:118–125.
   PubMed Web of Science ®Google Scholar
• Phillips C. Forensic genetic analysis of bio-geographical ancestry. Forensic Sci Int Genet. 2015;18:49–65.
   PubMed Web of Science ®Google Scholar
• Cardena MMSG, Ribeiro-dos-Santos A, Santos S, Mansur AJ, Pereira AC, Fridman C. Assessment of the relationship between self-declared ethnicity, mitochondrial haplogroups and genomic ancestry in Brazilian individuals. PLoS One. 2013;8(4):e62005.
   PubMed Web of Science ®Google Scholar
• Kayser M. Forensic DNA phenotyping: predicting human appearance from crime scene material for investigative purposes. Forensic Sci Int Genet. 2015;18:33–48.
   PubMed Web of Science ®Google Scholar
• Williams R, Wienroth M. Social and ethical aspects of forensic genetics: a critical review. Forensic Sci Rev. 2017;29(2):145–169.
   PubMedGoogle Scholar
• Rodriguez L. South Florida police bring new life to cold cases with DNA phenotyping; 2018. Available from: https://www.nbcmiami.com/news/local/South-Florida-Police-Bring-New-Life-to-Cold-Cases-With-DNA-Analysis-483093561.html. Accessed October 24, 2018.
   Google Scholar
• Pollack A. Building a face, and a case, on DNA; 2015. Available from: https://www.nytimes.com/2015/02/24/science/building-face-and-a-case-on-dna.html. Accessed October 24, 2018.
   Google Scholar
• KPLC News. Man arrested in 2009 killing of Sierra Bouzigard. 2017; Available from: http://www.kplctv.com/story/35955469/watch-live-at-130-pm-cpso-news-conference-regarding-cold-case-murder/. Accessed October 24, 2018.
   Google Scholar
• Kiger PJ. Composite faces from DNA help solve cold cases; 2018. Available from: https://science.howstuffworks.com/life/genetic/composite-faces-from-dna-help-solve-cold-cases.htm. Accessed October 24, 2018.
   Google Scholar
• Naham M. “DNA phenotyping” gives human skull found 41 years ago a face in cold case; 2018. Available from: https://lawandcrime.com/crazy/dna-phenotyping-gives-human-skull-found-41-years-ago-a-face-in-cold-case/. Accessed October 24, 2018.
   Google Scholar
• Butler C. It sounds like science fiction, but police created this sketch out of a suspect’s DNA; 2018. Available from: https://www.cbc.ca/news/canada/london/thera-dieleman-dna-composite-sketch-cold-case-1.4802027. Accessed October 24, 2018.
   Google Scholar
• Vogel G. German law allows use of DNA to predict suspects’ looks. Science. 2018;360(6391):841–842.
   Web of Science ®Google Scholar
• Chaitanya L, Pajnič IZ, Walsh S, Balažic J, Zupanc T, Kayser M. Bringing colour back after 70 years: predicting eye and hair colour from skeletal remains of World War II victims using the HIrisPlex system. Forensic Sci Int Genet. 2017;26:48–57.
   Web of Science ®Google Scholar
• Erasmus MC Press Release. EU horizon 2020-funded VISAGE project kicks off; 2017. Available from: https://www.erasmusmc.nl/perskamer/archief/2017/6234017/?lang=en. Accessed December 1, 2018.
   Google Scholar
• Chaitanya L, Walsh S, Andersen JD, et al. Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour. Forensic Sci Int Genet. 2014;11:241–251.
   PubMed Web of Science ®Google Scholar
• Rosenberg NA, Huang L, Jewett EM, Szpiech ZA, Jankovic I, Boehnke M. Genome-wide association studies in diverse populations. Nat Rev Genet. 2010;11(5):356–366.
   PubMed Web of Science ®Google Scholar
• McCarthy MI, Hirschhorn JN. Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet. 2008;17(R2):R156–R165.
   PubMedGoogle Scholar
• Kayser M, Liu F, Janssens AC, et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet. 2008;82(2):411–423.
   Web of Science ®Google Scholar
• Mengel-From J, Børsting C, Sanchez JJ, Eiberg H, Morling N. Human eye colour and HERC2, OCA2 and MATP. Forensic Sci Int Genet. 2010;4(5):323–328.
   Web of Science ®Google Scholar
• Donnelly MP, Paschou P, Grigorenko E, et al. A global view of the OCA2-HERC2 region and pigmentation. Hum Genet. 2012;131(5):683–696.
   PubMed Web of Science ®Google Scholar
• Walsh S, Chaitanya L, Breslin K, et al. Global skin colour prediction from DNA. Hum Genet. 2017;136(7):847–863.
   PubMed Web of Science ®Google Scholar
• Visser M, Palstra RJ, Kayser M. Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene. Hum Mol Genet. 2014;23(21):5750–5762.
   Web of Science ®Google Scholar