Contents lists available at ScienceDirect Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/fsigss mtDNAmap: Geographic representation of mtDNA Haplogroups Haroon ur Rasheed a , Muhammad Jawad b , Shahid Nazir b , Saadia Noreen b , Allah Rakha b, ⁎ a COMSATS Institute of Information Technology, Sahiwal, Pakistan b Department of Forensic Sciences, University of Health Sciences, Lahore, Pakistan ARTICLE INFO Keywords: mtDNA Phylogeography mtDNAmap Haplogroup ABSTRACT Mitochondrial DNA is inherited maternally and is thought to be evolved stepwise from one population to another population in the history of mankind. Haplogroup for any mtDNA provides us a solution for the logical classi- fication of the mitochondrial DNA based on established phylogenetic principles. There is a huge amount of scattered mtDNA sequence data from different global and regional populations. It demands a professional platform for representation of data to draw meaningful and simple-to-understand information about mtDNA distribution. Here, mtDNAmap provides geographical representation of mtDNA haplogroups’ frequencies in various populations all over the world according to their present day reported locations. It is a haplogroup frequency database of different populations calculated from the published data using their reported valid mtDNA sequences. Publicly available MtDNA sequences, processed through mtDNAprofiler for SNP determinations based on revised Cambridge Reference Sequence and followed by Haplogrep 2.0 for the determination of the haplogroups on the basis of most updated Phylotree version-17, are graphically represented on the dynamic map in the form of frequencies. mtDNAmap provides the open access to the whole or part of published high-quality curated data. The tool is not only useful for researchers from forensic and anthropology backgrounds but also in general public. 1. Introduction Human Mitochondria have several thousand copies of specific deoxyribonucleic acid known as mitochondrial DNA (mtDNA). Human mtDNA is a 16,569 bp double-stranded circular molecule that contains approximately 1121-bp non-coding region referred to as the control region or D-loop region, which harbors a series of regulatory segments for transcription and replication and remaining mtDNA encodes 37 genes, including 12S rRNA, 16S rRNA, 22 tRNA and 13 proteins that are critical for oxidative phosphorylation (OXPHOS) [1]. Being the ma- ternally inherent and absence of recombination, the molecule con- served the same pattern of common ancestry and is geographically lo- calized. A relatively higher rate of mutation in mtDNA (nearly 482 polymorphisms) [2] and along with other prominent properties like maternal inheritance and no recombination makes this molecule a vital element in the studies of population genetics, forensics and medical genetics [3]. mtDNA is thought to be evolved stepwise from one po- pulation to another population in the history of mankind and the use of mtDNA genealogies and relevant geographic information helps in un- derstanding the genetic structure of the sampled population [4].mtDNA mutations over time had classified the human population into several discrete haplogroups. The major haplogroups arose 40,000–150,000 years before present (YBP) and have defined different human popula- tions as they migrated out of Africa and populated the globe [5]. The recent advancements in the study of mtDNA have equipped us with a complete automated system for the study of classification of the specific mtDNA in the form of haplogroups [6]. Haplogroup for any mtDNA provides us a solution for logical classification of mitochondrial DNA based on established phylogenetic principles. There is a huge amount of scattered mtDNA sequence data from different global and regional populations. It demands a professional platform for representation of data to draw meaningful and simple-to-understand information about mtDNA distribution. Here, mtDNAmap provides geographical re- presentation of mtDNA haplogroups’ frequencies in various populations all over the world according to their present day reported locations. It is a haplogroup frequency database of different populations calculated from the published data using their reported valid mtDNA sequences. Haplogroups are calculated by using HaploGerp 2.0 [6] with latest Phylotree [7], the de facto standard mtDNA tree. 2. Database architecture and management mtDNAmap is currently implemented using MySQL, an open-source relational database management system (RDBMS) with the help of http://dx.doi.org/10.1016/j.fsigss.2017.09.208 Received 10 September 2017; Received in revised form 22 September 2017; Accepted 25 September 2017 ⁎ Corresponding author at: Department of Forensic Sciences, University of Health Sciences, Lahore, Pakistan. E-mail address: dnatypist@gmail.com (A. Rakha). Forensic Science International: Genetics Supplement Series 6 (2017) e516–e517 Available online 25 September 2017 1875-1768/ © 2017 Elsevier B.V. All rights reserved. T