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Skin Pigmentation Diversity in Central East Indian Populations and Its Nizamuddin S, et al., J Genet Genomic Sci 2016, 1: 005 DOI: 10.24966/GGS-2485/100005 HSOA Journal of Genetics & Genomic Sciences Research Article differences between melanin index of one haplogroup against anoth- Skin Pigmentation Diversity in er haplogroup; (a) M vs U, p = 0.0845, (b) M vs R, p = 0.895, (c) M vs L, p = 0.513, (d) U vs R, p = 0.258, (e) U vs L, p = 0.635 and (f) Central East Indian Populations R vs L, p = 0.613. Our study reveals that cast populations of central east India, represent significantly different melanin index and diverse and its Correlation with Mito- mitochondrial haplogroup. Our study signifies that mitochondrial haplogroups, do not have any genetic influence on melanin index. chondrial Haplogroups However, further study on larger cohort, will elucidate, more about diversity and pigmentation relation in India. Sheikh Nizamuddin1*#, Gaurav Gupta1,2#, Abhishek Mishra3,4#, Niti Yashvardhini5, Sonika Pandey6, Shradha Pandey6, Shub- ham Mishra4, Shruti Shukla1, Shubhra Pandey7, Arti Dubey8, Introduction Vandana Agnihotri8, Shahnawaz A Sheikh1, Shashank Upad- Indian subcontinent represents 1/6 of total world population. In- hyay9, Vijay Kumar Prajapati10, Biswajit Roy1, Heui Soo-Kim11 dia is well known for its cultural, social and ecological diversity. It is and Anshuman Mishra1,4,6,11* also one of the most genetically diverse geographical regions, which 1Centre for Cellular and Molecular Biology, Hyderabad, India consists of 4,635 anthropologically well-defined groups, who were fol- 2Genome Foundation, Hyderabad, India lowing endogamy marriage practices from thousands of years [1-3]. 3 Oriental Institute of Science and Technology, Bhopal, India Geographical regions of India, Sri Lanka, Myanmar, Bangladesh, 4Phenome Research Foundation, Varanasi, India Bhutan, Nepal, Tibet (China), Afghanistan and Pakistan constitute 5Bose Institute, Kolkata, India together the Indian subcontinent regions. Indian subcontinent also 6Banaras Hindu University, Varanasi, India referred as South Asian region and encompasses the highest genetic diversity after Africa. This is because, during the out of Africa migra- 7A.K.P.G. College, Varanasi, India tion of Homo sapiens, the Indian subcontinent has acted as an incu- 8 Barkatullah University, Bhopal, India bator for populations, who then spread and colonized the world [1-3]. 9Invertis University, Bareilly, India Being the central of these countries, India is considered as a major 10Central University of Rajasthan, Ajmer, India corridor for the dispersal of modern human [1-3]. It has been studied 11Pusan National University, Busan, Korea that Indian populations largely constitute the same gene pool [2-5]. In population genetic studies, we study several populations based Abstract on their genetic characteristics. Here we study the DNA marker based on mitochondrial Hyper Variable Region (HVR). We study mitochon- India is well known for its cultural, social, ecological and genetic drial markers to find out genetic diversity and evolutionary process diversity in South Asia. Uttar Pradesh and Bihar states were one among populations [6]. Indian population is complex in terms of di- of oldest population habitat in central east region of India. In the present study, we explored pigmentation (melanin index) diversity of versity of languages affiliation, ancestry and various other phenotype 6872.649 km2 and 2736.333 km2 regions of Uttar Pradesh and Bihar parameters [1,2]. Human genetics and environment plays together for states of India respectively. We found high pigmentation diversity shaping skin pigmentation variations. Whatever huge pigmentation and wide presence of major mitochondrial haplogroups in small re- variation we observed across the world, is largely shaped by different gion of Indian subcontinent, which might be true for all geographical levels of UV radiations [7]. Pigmentation studies were helpful in un- region of South-Asia. Further, we correlated the melanin index with derstanding the evolutionary processes. Study shows that role of mel- social status (General (GN), Other Backward Classes (OBC) and anin is very important in pigmentation variation, where it is perform- Scheduled Castes (SC)) and mitochondrial haplogroups. The mela- ing dual role and make delicate balance between the skin being light nin index is marginally different between OBC and SC (p = 0.0142) enough at low UVR zones (to allow sufficient production of vitamin while significantly different from GN vs OBC (p = 3.33 × 10-12) D) and dark enough at high UVR zones (for protection against sun and GN vs SC (p < 2 × 10-16). We did not observe any significant burn and degradation of folate) [8-10]. Any imbalance between these *Corresponding authors: Anshuman Mishra, Phenome Research Foundation, dual procedures would have wide-range of effects on human health Varanasi, India; Genetic Engineering Institute, Pusan National University, Re- (reproductive fitness, skin cancer, anaemia, fetal abnormalities, sper- public of Korea, Tel: +82 515102259; E-mail: [email protected] matogenesis, rickets and vitamin D deficiency) [9]. Sheikh Nizamuddin, CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India; E-mail: [email protected] There were several pigmentation studies revealing association with #Equal First Author pigmentation candidate gene in South Asia and they have approved the act of natural selection process of human populations [7-12]. Citation: Nizamuddin S, Gupta G, Mishra A, Yashvardhini N, Pandey S, et al. (2016) Skin Pigmentation Diversity in Central-East Indian Populations and Previous report, observed the significant association with rs1426654, its Correlation with Mitochondrial Haplogroups. J Genet Genomic Sci 1: 005. with skin pigmentation in populations living specifically in India [8]. Received: October 01, 2016; Accepted: December 08, 2016; Published: Recent study on same region (middle gangetic regions of central east December 26, 2016 part of India) had well established the association with pigmentation Citation: Nizamuddin S, Gupta G, Mishra A, Yashvardhini N, Pandey S, et al. (2016) Skin Pigmentation Diversity in Central-East Indian Populations and its Correlation with Mitochondrial Haplogroups. J Genet Genomic Sci 1: 005. • Page 2 of 7 • diversity and the populations [13,14]. The central east region of India S. Popula- Sample Average Social is one of the most fertile and densely populated regions (http://www. State Std dev. No. tion size MI category censusindia.gov.in). This region represents more than hundreds eth- Uttar nic groups and considered as a one of the oldest continuously inhabit- Pradesh 1 Brahmin 99 47.997 (+/-) 7.882 General ed places in the world [15]. The central east populations were living in and one of the oldest and continuously habituated regions of India. These Bihar populations further explore and spread to various parts of India. Tra- Uttar Pradesh (+/-) ditionally these populations were divided into various casts depending 2 Bhumihar 54 46.45185 General and 5.104557 on old Hindu mythology. Religiously Muslim populations were also Bihar present dominantly in same region. Various subjects were categorized Srivastava Uttar (+/-) 3 13 48.23077 General based on their specific cast and described as cast populations due to (Kayasth) Pradesh 6.678714 presence of endogamy pattern. Cast populations were also based on Other (+/-) 4 Prasad Bihar 16 57.42188 Backward traditional Indian system of “work based population groups” or more 9.551771 specifically “Chaturvarna”, which included Brahmins (practices teach- Class ing and religious rites), Kshatriyas (warriors or defendants), Vaishyas Uttar Pradesh (+/-) 5 Kshatriya 30 51.35833 General (traders, artisans) and Shudras (smaller activities). Further these casts and 8.296126 were divided among sub casts or region specific population groups Bihar and identified by their surnames or gotras (ancestor name). They (+/-) 6 Muslim Bihar 83 58.38916 Religion maintain their unique socio-cultural identity due to strict endogamy, 8.3316 specific rituals and marriage practices, which provide genetic differen- Kurmi Other Uttar (+/-) 7 (Patel / 26 57.62692 Backward tiation due to isolation or specific environment due to passage of time. Pradesh 8.626937 Additionally, regional and social effect also play key role in shaping re- Singh) Class Rai Other gional sub cast populations, which makes ultimately cast system more (+/-) 8 (Yadav, Bihar 144 59.3814 Backward 9.8346 complicated. Currently, various cast populations were further polit- Bihar) Class ically divided in to General (GN), Other Backward Classes (OBC), Other (+/-) Scheduled Castes (SC) and Scheduled Tribes (ST). This division was 9 Sah Bihar 61 61.31148 Backward 9.770941 according to socioeconomic status of various casts of the society by Class the Constitution of India. In the present study, we have analyzed the Other (+/-) 10 Mahto Bihar 130 62.35577 Backward data based on above broad category, which gives general implication 10.07836 Class of social cast system of India. Since, evolutionary background of many (+/-) Schedule populations is still not clear so, we have discussed in brief about evo- 11 Sahni Bihar 76 63.14276 8.407975 Caste lutionary background of some important populations based on their (+/-) Schedule 12 Ram Bihar 95 63.34737 phenotype and mtDNA study. It was interesting to observe highly 9.799078 Caste diverse skin pigmentation and wide presence of major Mitochondri- (+/-) Schedule 13 Paswan Bihar 117 63.7641 al haplogroups (MT-haplogroup) in central
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