Genetic disorders associated with mutations in bHLH transcription factors: a review

This thesis is submitted in partial fulfillment of the requirements for the degree of Bachelor of Science in Biotechnology 2022.

Bibliographische Detailangaben
1. Verfasser: Joya, Mollika Bharadwaj
Weitere Verfasser: Turjya, Rafeed Rahman
Format: Abschlussarbeit
Sprache:English
Veröffentlicht: Brac University 2023
Schlagworte:
Online Zugang:http://hdl.handle.net/10361/18287
id 10361-18287
record_format dspace
spelling 10361-182872023-05-15T21:01:52Z Genetic disorders associated with mutations in bHLH transcription factors: a review Joya, Mollika Bharadwaj Turjya, Rafeed Rahman Department of Mathematics and Natural Sciences, Brac University bHLH proteins Transcriptional factors Domain Mutations Chromosome Inheritance Biotechnology This thesis is submitted in partial fulfillment of the requirements for the degree of Bachelor of Science in Biotechnology 2022. Catalogued from PDF version of thesis. Includes bibliographical references (pages 90-113). bHLH proteins belong to a superfamily of proteins characterized by one of the largest dimerized transcriptional proteins. The main role of bHLH protein is in the developmental processes. They function as transcriptional factors, proteins that regulate the transcription of DNA into RNA. bHLH proteins are one of the most important proteins that help in many developmental processes during transcription process. Specifically, bHLH proteins play a role of determination of neural cells fates and ensure the exact number of specific neural cell production. The functions of bHLH proteins are strictly regulated. Mutations and deformations during transcription process on bHLH proteins can create genetic disorders. Disorders happen due to specific bHLH gene mutation and affects tissues. In this review, about 57 different genetic diseases are being discussed that are caused by mutations on different bHLH genes. Some of them are life threatening mutations and others make people handicapped for the rest of their life. Diseases like Cancer, Autoimmune disorders, Neurological disorders, Cardiovascular disorders, Obesity and many more can be caused by mis-regulations or mutations in regulatory sequences. The review sheds light on how bHLH protein mutations can cause widespread issues in different physiological systems. Mollika Bharadwaj Joya B. Biotechnology 2023-05-15T05:21:12Z 2023-05-15T05:21:12Z 2022 2022-11 Thesis ID 17136031 http://hdl.handle.net/10361/18287 en Brac University theses are protected by copyright. They may be viewed from this source for any purpose, but reproduction or distribution in any format is prohibited without written permission. 125 pages application/pdf Brac University
institution Brac University
collection Institutional Repository
language English
topic bHLH proteins
Transcriptional factors
Domain
Mutations
Chromosome
Inheritance
Biotechnology
spellingShingle bHLH proteins
Transcriptional factors
Domain
Mutations
Chromosome
Inheritance
Biotechnology
Joya, Mollika Bharadwaj
Genetic disorders associated with mutations in bHLH transcription factors: a review
description This thesis is submitted in partial fulfillment of the requirements for the degree of Bachelor of Science in Biotechnology 2022.
author2 Turjya, Rafeed Rahman
author_facet Turjya, Rafeed Rahman
Joya, Mollika Bharadwaj
format Thesis
author Joya, Mollika Bharadwaj
author_sort Joya, Mollika Bharadwaj
title Genetic disorders associated with mutations in bHLH transcription factors: a review
title_short Genetic disorders associated with mutations in bHLH transcription factors: a review
title_full Genetic disorders associated with mutations in bHLH transcription factors: a review
title_fullStr Genetic disorders associated with mutations in bHLH transcription factors: a review
title_full_unstemmed Genetic disorders associated with mutations in bHLH transcription factors: a review
title_sort genetic disorders associated with mutations in bhlh transcription factors: a review
publisher Brac University
publishDate 2023
url http://hdl.handle.net/10361/18287
work_keys_str_mv AT joyamollikabharadwaj geneticdisordersassociatedwithmutationsinbhlhtranscriptionfactorsareview
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