Refine your search
Collections
Co-Authors
Year
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z All
Agrawal, Garima
- Inter-and Intra-individual Polymorphism in MtDNA Control Region: a Preliminary Report on MtDNA Haplotypes, Inheritance and Segregation of Heteroplasmy in 10 Maternal Pedigrees
Abstract Views :254 |
PDF Views:0
Authors
Affiliations
1 Department of Zoology, Punjabi University, Patiala, Punjab, IN
2 Department of Zoology, Punjabi University, Patiala, Punjab, IN
3 Forensic Science Laboratory, Govt. of NCT of Delhi, Madhuban, Chowk, Rohini, Sector 14, New Delhi-110 085, IN
1 Department of Zoology, Punjabi University, Patiala, Punjab, IN
2 Department of Zoology, Punjabi University, Patiala, Punjab, IN
3 Forensic Science Laboratory, Govt. of NCT of Delhi, Madhuban, Chowk, Rohini, Sector 14, New Delhi-110 085, IN
Source
Indian Journal of Forensic Medicine & Toxicology, Vol 3, No 2 (2009), Pagination: 9-17Abstract
The high copy number and maternal inheritance property of human mitochondrial DNA (mtDNA) has made it a favorable tool for forensic investigations. Especially, the mtDNA control region contains highly variable regions that are exploited by the forensic scientists for identification purposes. In the present study, hypervariable regions I, II and III (HVRI, HVRII and HVRIII) were determined by direct sequencing from samples derived from 10 maternal lineages, spanning three generations. Interfamily comparison led to the identification of 10 different haplotypes belonging to haplogroup W, M, U and R. We have also determined the presence of sequence and length heteroplasmy - its inheritance and segregation amongst the maternally related members of the family, in blood and buccal cell DNA. One instance of point heteroplasmy in family 2, HV1 homo-polymeric tract heteroplasmy in 4 families and HV2 poly- C tract heteroplasmy in all the 10 families with varying degree was observed. A typical pattern of segregation of length heteroplasmic pool was also observed in family 1. The existence of germline as well as somatic heteroplasmy greatly affects the interpretation of mtDNA data in forensic investigation. We have attempted to understand the segregation phenomenon of multiple mtDNA haplotypes at the germline as well as somatic level.Keywords
mtDNA, Maternal Inheritance, Heteroplasmy, HVR1, HVR2, HVR3, Poly-nucleotide Stretch, Homopolymeric Tract
References
- Anderson S, Bankier AT, Barrell BG, Bruijin MHL de, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Shreier PH, Smith AJH, Staden R, Young IG. Sequence and organization of the human mitochondrial DNA. Nature Genetics 1981; 9:290.
- Greenberg BD, Newbold JE, Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene 1983; 21: 33-49.
- Melton T, Wilson M, Batzer M, Stoneking M. Extent of heterogeneity in mitochondrial DNA of European populations. J Forensic Sci 1997; 42: 437–446.
- Gresham D, Morar B, Underhill PA, Passarino G, Lin AA, Wise C, Angelicheva D, Calafell F, Oefner PJ, Shen P, Tournev I, dePablo R, Kucinskas V, Perez-Lezaun A, Marushiakova E, Popov V, Kalaydjieva L. Origins and divergence of the Roma gypsies. Am J Hum Genet 2001; 69:1314–1331.
- Ingman M, Gyllensten U. Analysis of the complete human mtDNA genome: methodology and inferences for human evolution. J Hered 2001; 92:454–461.
- Roychoudhury S, Roy S, Basu A, Banerjee R, Vishwanathan H,Usha Rani MV, Sil SK, Mitra M, Majumder PP. Genomic structures and population histories of linguistically distinct tribal groups of India. Hum Genet 2001; 109:339–350.
- Metspalu M, Kivisild T, Metspalu E, Parik J, Hudjashov G, KaldmaK, Serk P, Karmin M, Behar DM, Gilbert MT, EndicottP, Mastana S, Papiha SS, Skorecki K, Torroni A, Villems R. Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet 2004 ; 5:26.
- Thangaraj K, Chaubey G, Kivisild T, Reddy AG, Singh VK, Rasalkar AA, Singh L. Reconstructing the origin of Andaman Islanders. Science 2005; 308:996.
- Houck MM, Budowle B. Correlation of microscopic and mitochondrial DNA hair comparisons. J Forensic Sci 2002; 47:964–967.
- Koyama H, Iwasa M, Ohtani S, Ohira H, Tsuchimochi T, MaenoY, Isobe I, Matsumoto T, Yamada Y, Nagao M. Personal identification from human remains by mitochondrial DNA sequencing. Am J Forensic Med Pathol 2002; 23:272–276.
- Budowle B, Gyllensten U, Chakraborty R, Allen M. Forensic analysis of the mitochondrial coding region and association to disease. Int J Leg Med 2005; 119: 314- 315.
- Giles RE, Balnc H, Cann HM, Wallace DC. Maternal Inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 1980; 77: 6715-6719.
- Case JT, Wallace DC. Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Somatic Cell Genet 1981; 7: 103-108.
- Sekiguchi K, Kasai K, Levin BC. Inter- and Intra-generational transmission of a human mitochondrial DNA heteroplasmy among thirteen maternally related individuals and differences between and within tissues in two family members. Mitochondrion 2003; 2: 401-414.
- Lutz S, Weisser Hans-Joachim, Heizmann J, Pollak S. Mitochondrial heteroplasmy among maternally related individuals. Int J Legal Med 2000; 113: 155-161.
- Asari M, Azumi J, Shimizu K, Shiono H. Differences in tissue distribution of HV2 length heteroplasmy in mitochondrial DNA between mothers and children. For Sci Int 2008; 1752-3:155-9.
- Brandstatter A, Niederstatter H, Parson W. Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region. Int J Legal Med 2004; 118:47-54.
- Palanichamy MG, Sun C, Agrawal S, Bandelt HJ, Kong QP, Khan F, Wang CY, Chaudhuri TK, Palla V, Zhang YP. Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 2004; 75:966– 978
- Rajkumar R, Kashyap VK. Haplotype diversity in mitochondrial DNA hypervariable regions I and II in three communities of Southern India. Forensic Sci Int 2003; 136:79–82
- Rajkumar R, Banerjee J, Gunturi HB, Trivedi R, Kashyap VK. Phylogeny and antiquity of M macrohaplogroup inferred from complete mtDNA sequence of Indian specific lineages. BMC Evol Biol 2005; 5:26
- Roychoudhury S, Roy S, Dey B, Chakraborty M, Roy M, Roy B, Ramesh A, Prabhakaran N, Rani MVU, Vishwanathan HMM. Fundamental genomic unity of ethnic India is revealed by analysis of mitochondrial DNA. Curr Sci 2000; 79:1182–1192
- Roychoudhury S, Roy S, Basu A, Banerjee R, Vishwanathan H, Usha Rani MV, Sil SK, Mitra M, Majumder PP. Genomic structures and population histories of linguistically distinct tribal groups of India. Hum Genet 2001; 109:339–350
- Koyama H, Iwasa M, Ohtani S, Ohira H, Tsuchimochi T, Maeno Y, Isobe I, Matsumoto T, Yamada Y, Nagao M. Personal identification from human remains by mitochondrial DNA sequencing. Am J Forensic Med Pathol 2002; 23:272–276.
- Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge Reference Sequence for human mitochondrial. DNA Nature Genetics 1999; 23: 147.
- Carracedo A, Bar W, Lincoln P, Mayr W, Morling N, Olaisen B, Schneider B, Budowle B, Brinkmann B, Gill P, Holland M and Tully MW. DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing. For Sci Int 2000; 110: 79-85.
- Tully G, Bar W, Brinkmann B, Carracedo A, Gill P, Morling N, Parson W, Schneider P. Considerations by the European DNA profiling EDNAP group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles. For Sc Int 2001; 124: 83-91.
- Wilson M, DiZinno J, Polansky D, Repogle J, Budowle B. Guidelines for the use of mitochondrial DNA sequencing in forensic science Crime Lab Digest 1993; 20: 68-77
- Metspalu M, Kivisild T, Metspalu E, Parik J, Hudjashov G, KaldmaK, Serk P, Karmin M, Behar DM, Gilbert MT, Endicott P, Mastana S, Papiha SS, Skorecki K, Torroni A, Villems R. Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet 2004; 5:26.
- MITOMAP: A Human Mitochondrial Genome Database. 2008. http://www.mitomap.org,
- Lansmann RA, Avise JC, Huettel MD. Critical experimental test of the possibility of “paternal leakage” of mtDNA. Proc Natl Acad Sci USA 1983; 80: 1969-1971.
- Gyllensten U, Wharton D, Wilson, AC. Maternal inheritance of mitochondrial DNA during backcrossing of two species of mice. Journal of heredity 1985; 76: 321-324.
- Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. New Engl J Med 2002; 347: 576.
- Bendall KE, Macaulay VA, Baker JR, Sykes BC. Heteroplasmic point mutations in the human mtDNA control region. Am J Hum Genet 1996; 59:1276-1287.
- Wilson MR, Polansky D, Replogle J, DiZinno JA, Budowle B. A Family exhibiting heteroplasmy in the human mitochondrial control region reveals both somatic mosaicism and pronounced segregation of mitotypes. Hum Genet 1997; 100: 167-171.
- Parsons TJ, Muniec DS, Sullivan K, Woodyatt N, Alliston GR, Wilson MR, Berry DL. A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet 1997; 15: 363-368.
- Gocke CD, Benko FA, Rogan PK. Transmission of mitochondrial DNA heteroplasmy in normal pedigrees. Hum Genet 1998; 102:182–186.
- Shoubridge EA. Mitochondrial DNA segregation in the developing embryo. Hum Reprod 2000; 15 [Suppl 2]:229– 234.
- Jansen RP. Germline passage of mitochondria: quantitative considerations and possible embryological sequelae. Hum Reprod 2000; 15 [Suppl 2]:112–128.
- Chen X, Prosser R, Simonetti S, Sadlock J, Jagliello G, Schon EA. Rearranged mitochondrial genomes are present in oocytes. Am J Hum Genet 1995; 57: 239-247.
- Bogenhagen D, Clayton DA. The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. J Bio Chem 1974; 249: 7791.
- Marchington DR, Hartshorne GM, Barlow D, Poulton J. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am J Hum Genet 1997; 60: 408-416.
- Lutz-Bonengel S, Sanger T, Pollak S, Szibor R. Different methods to determine length heteroplasmy within the mitochondrial control region. Int J Legal Med 2004; 118:274–281
- Lee HY, Chung U, Yoo JE, Park MJ, Shin KJ. Quantitative and Qualitative profiling of mitochondrial DNA length heteroplasmy. Electrophoresis 2005; 25:28-34
- Oberacher H, Niederstätter H, Parson W. Liquid chromatography–electrospray ionization mass spectrometry for simultaneous detection of mtDNA length and nucleotide polymorphisms. Int J Legal Med 2007; 121:57–67
- Cinnery PF, Zwijnenberg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Non-random tissue distribution of mutant mtDNA. Med Genet 1999; 85: 498.
- Taylor RW, Taylor GA, Morris GM, Edwardson JM, Turnbull DM. Diagnosis of mitochondrial disease: Assessment of mtDNA heteropalsmy in blood. Biochem Biophys Res Com 1998; 251: 883.
- Calloway CD, Reynolds RL, Herrin GL Jr, Anderson WW. The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age. Am J Hum Genet 2000; 66: 1384-1397.
- Gill P, Ivanov PL, Kimpton C, Piercy R, Benson N, Tully G, Evett I, Hagelberg E, Sullivan K. Identification of remains of the Romanov family by DNA analysis. Nat Genet 1994; 6: 130-135.
- Jehaes E, Pfeiffer H, Toprak K, Decorte R, Brinkmann B, Cassiman JJ. Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette. Eur J Hum Genet 2001; 9: 185-190.
- Jehaes E, Toprak K, Vanderheyden N, Pfeiffer H, Cassiman JJ, Brinkmann B, Decorte R. Pitfalls in the analysis of mitochondrial DNA from ancient specimens and the consequences for forensic DNA analysis: the historical case of the putative heart of Louis XVII. Int J Legal Med 2001; 1153: 135-141.
- Forster P, Harding R, Torroni A, Bandelt HJ. Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 1996; 59:935–945