Sequence polymorphism data of the hypervariable regions of mitochondrial DNA in the Yadav population of Haryana

Verma, Kapil; Sharma, Sapna; Sharma, Arun; Dalal, Jyoti; Bhardwaj, Tapeshwar

doi:10.1016/j.dib.2018.03.004

Cited by 4 publications

(3 citation statements)

References 8 publications

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“…The polymorphism, m.315dup, is considered to be one of the most recent mutations, occurring in the last 60,000 years. This is a type of mutation, now well accepted and detailed in many of the phylogenetic trees, which is related to haplogroup H. Although this haplogroup is related to populations of ethnic origin, it has been found to have a high prevalence in Latin American mestizos and in other populations with different haplogroups [60][61][62][63][64][65].…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Control Region Variants Related to Breast Cancer

Hernández¹,

Avalos²,

Zuñiga³

et al. 2022

Preprint

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Breast cancer has an important incidence in the worldwide female population. Although alterations in the mitochondrial genome probably play an important role in carcinogenesis, the actual evidence is ambiguous and inconclusive. The purpose of the present work was to explore mitochondrial sequences of clinical cases with breast cancer from different origins and determine the polymorphisms associated. The search for complete and partial mtDNA sequences obtained from breast cancer patients and controls was performed in NCBI Genbank database. We identified 124 mtDNA sequences associated to breast cancer cases of which 86 were complete and 38 partial sequences. Of these 86 complete sequences, 52 belong to patients with a confirmed diagnosis of breast cancer and 34 sequences were obtained from healthy mammary tissue of the same patients used as controls. From mtDNA analysis, two polymorphisms with significative statistical differences were found in D130 in sequences analyzed: m.310del (rs869289246) in 34.6% (27/78) breast cancer cases and 61.7% (21/34) of controls; and m.315dup (rs369786048) in 60.2% (47/78) of breast cancer cases and 38.2% (13/34) of controls. Also, the variant m.16519T>C (rs3937033) was found in 59% of control sequences and 52% of breast cancer sequences with a significant statistical difference. Polymorphic changes are evolutionarily related to haplogroup H of Indo-European and Euro Asiatic origins, however, were found in all non-European sequences with breast cancer.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial Control Region Variants Related to Breast Cancer

Hernández¹,

Avalos²,

Zuñiga³

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…The polymorphism m.315dup is considered to be one of the most recent mutations, occurring in the last 60,000 years. This is a type of mutation, now well accepted and detailed in many of the phylogenetic trees, which is related to haplogroup H. Although this haplogroup is related to populations of ethnic origin, it has been found to have a high prevalence in Latin American mestizos and in other populations with different haplogroups [ 60 , 61 , 62 , 63 , 64 ].…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Control Region Variants Related to Breast Cancer

Avalos

Hernández

Zuñiga

et al. 2022

Genes

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Breast cancer has an important incidence in the worldwide female population. Although alterations in the mitochondrial genome probably play an important role in carcinogenesis, the actual evidence is ambiguous and inconclusive. Our purpose was to explore differences in mitochondrial sequences of cases with breast cancer compared with control samples from different origins. We identified 124 mtDNA sequences associated with breast cancer cases, of which 86 were complete and 38 were partial sequences. Of these 86 complete sequences, 52 belonged to patients with a confirmed diagnosis of breast cancer, and 34 sequences were obtained from healthy mammary tissue of the same patients used as controls. From the mtDNA analysis, two polymorphisms with significant statistical differences were found: m.310del (rs869289246) in 34.6% (27/78) of breast cancer cases and 61.7% (21/34) in the controls; and m.315dup (rs369786048) in 60.2% (47/78) of breast cancer cases and 38.2% (13/34) in the controls. In addition, the variant m.16519T>C (rs3937033) was found in 59% of the control sequences and 52% of the breast cancer sequences with a significant statistical difference. Polymorphic changes are evolutionarily related to the haplogroup H of Indo-European and Euro-Asiatic origins; however, they were found in all non-European breast cancers.

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“…This is the type of mutations, now well accepted and detailed in many of the phylogenetic trees, related to haplogroup H (56). Although this haplogroup is related to populations of ethnic origin, it has been found to have a high prevalence in Latin American mestizos and in other populations with different haplogroups (55)(56)(57)(58)(59)(60)(61).…”

Section: Discussionmentioning

confidence: 99%

Insights Breast Cancer through mitochondrial genomics

Baptista‐Rosas

Mercado-Sesma

Hernández

et al. 2019

Preprint

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Background Breast cancer has a predominant incidence and prevalence in Caucasian women. Although alterations in the mitochondrial genome probably play an important role in carcinogenesis, the actual evidence is ambiguous and inconclusive. The purpose of the present work was to determine the frequency of polymorphisms associated with breast cancer exploring mitochondrial sequences of clinical cases diagnosed from different origins reusing information available in the public free access database GenBank.Results 110 mtDNA sequences associated to breast cancer cases were identified, of which 72 sequences were complete mitochondrial chromosome and 38 partial sequences. Of these 110 identified sequences, 85 belong to patients with a confirmed diagnosis of breast cancer and 25 complete sequences were obtained from healthy mammary tissue of the same patients. In addition, we obtained 49 complete mtDNA sequences from Eskimo and Inuit individuals, a low prevalence breast cancer population, used as controls. From patients diagnosed with breast cancer, T16519C was found in 60% of the breast cancer sequences and less than 20% of controls sequences (P = 0.427). Two changes were found in D130 in all sequences analyzed, the first characterized by the insertion of base C in position 315 and, the second, a transition of cytosine by at least two cytosines and one thymine at position 309 always followed by another transition of thymine by cytosine in the position 310. ConclusionsBoth polymorphisms, T16519C and D130, are evolutionarily related to haplogroup H of Caucasian origin of Indo-European and Euro Asiatic origins. However, they were also found in all sequences of non-European origin with breast cancer. The changes in the mtDNA of patients with breast cancer are polymorphic and not associated with a few unique mutations. Genebank ID number sequencePosition in mtDNA sequence Type of Heteroplasmy

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Sequence polymorphism data of the hypervariable regions of mitochondrial DNA in the Yadav population of Haryana

Cited by 4 publications

References 8 publications

Mitochondrial Control Region Variants Related to Breast Cancer

Mitochondrial Control Region Variants Related to Breast Cancer

Mitochondrial Control Region Variants Related to Breast Cancer

Insights Breast Cancer through mitochondrial genomics

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