0000-0002-6398-0339 About
With a Ph.D. awarded in February 2023 from the Department of Zoology, University of Calcutta, focusing on the etiology of Down syndrome by studying the maternal genetic risk factors for nondisjunction of chromosome 21, I bring over 6 years of dedicated research experience in genetic risk factor analysis from clinical samples. My academic background includes an M.Sc. in Zoology with specialization in Genetics and Immunology, as well as a B.Sc. Hons in Zoology, both obtained from the University of Calcutta. My doctoral work was focused on understanding the association of genetic risk factors that influenced errors during homologous recombination, which results in chromosome 21 non-disjunction either during meiosis I or meiosis II among women with Down syndrome child. My study exhibited that the prevalence of allelic variants of the genes- MCM9, RNF212, and PRDM9 were contributing risk factors for the non-disjunction in our Indian Bengali speaking population. Furthermore, these genes have some novel variants that I discovered and submitted to NCBI GenBank and was given an accession number for each. I have shown that the risk variants of these genes significantly increased the frequency of non-exchange cross-over events during meiosis I across all age groups (i.e., young, middle, and old age groups), which is a well-established molecular correlate for non-disjunction. In addition, the location of the chiasma during a single recombination event across the Hsa21q arm was shown to be impacted by the risk variants of RNF212 and PRDM9. While PRDM9 risk variants show both telomeric and centromeric chiasma formation, risk variants of RNF212 contribute to the formation of telomeric chiasma. Therefore, it is possible to speculate that while PRDM9 risk variants show an age-dependent pattern of aberrant recombination leading to NDJ, RNF212 risk variants support an age-independent pattern of aberrant recombination. The MCM9 variants have no effect on the chiasma location. I have also determined that these variants have probable damaging effects at the mRNA and protein level via in silico approach.
Employment
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University of Calcutta Senior Research Fellow2019 - 2023
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University of Calcutta Junior Research Fellow2016 - 2018
Education
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University of Calcutta Ph.D.2016 - 2023
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University of Calcutta B.Sc. Hons2009 - 2012
Projects & Funding
Projects & funding information is unavailable.
Publications (8)
- Aberrant meiotic recombination mediated by maternal RNF212, PRDM9, and SPO11 variants increases risk of chromosome 21 nondisjunction and Down syndrome birth Save
- Impact of COVID-19 Pandemic on Psychosocial Attributes of Indian Families Bearing Child With Down Syndrome: A Survey by Trisomy 21 Research Society (T21RS), Indian Chapter Save
- Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte Save
- Evaluation of potency of the selected bioactive molecules from Indian medicinal plants with MPro of SARS-CoV-2 through in silico analysis Save
- Understanding etiology of chromosome 21 nondisjunction from gene × environment models Save
- The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte Save
- Polymorphisms of folate metabolism regulators increase risk of meiosis II nondisjunction of chromosome 21 in oocyte Save
- Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis‐II nondisjunction at younger age and without any detectable recombination error Save