Page 79 - Annual report 2021-22

Annual Report 2021-22 |

This decision unit focuses on the integrative analysis of cellular interactions and molecular
pathways to improve our understanding of a variety of fundamental biological phenomena
like cancer, neurodegeneration, cell fate decisions and wound healing.

62
Recent Progress:

● Neural crest defects can explain the pleiotropic effects seen in Rubinstein Taybi syndrome
caused by KAT3 mutations.
● H19 might influence the cellular levels of Vdac1 and subsequent cellular processes. In vivo,
H19 inhibition induced ER stress and JNK phosphorylation without altering the activation of
the other MAPKs.
● miR-539-5p-DNMT-3B axis was found to alter levels of Srebf1 in the skeletal muscle. In vivo
antagonism of this miRNA in normal mice induced hyperglycemia and impaired oral glucose
tolerance.
● Glycosylated Hp tetramer protein was found to be down regulated and autoantibody against
Hp-beta subunit. The data suggests that poor clearance of free haemoglobin may be
associated with Osteoarthritis pathogenesis.
● hTERT promoter mutations frequently found in many aggressive cancers including
glioblastoma and melanomas led to destabilization of a G quadruplex structure formed at the
hTERT promoter.
● The tumor suppressing potential of NME2 derived peptides were further established by in vivo
experiments using xenografts developed in mice.
● Non-telomeric TRF2 is involved in interleukin signalling and anti-tumour immune response.
● Single cell sequencing of cultured melanocytes identified a defined subset of cells that indicate
altered maturation status and proliferative sub-population.
● The lncRNA, Durga is expressed in the habenula of zebrafish and ectopic expression of the
gene leads to compromised fear response.

● Developed several mutant lines from which the carbonic anhydrase knockout Ca14, H2A.Z.2
emerged as a complete knockout which has now been extensively characterized for its role in
melanocyte specification and maturation process respectively.

● Development of `Genoderm Matrix`, an online phenotype-genotype characterization tool, to
enable a rapid, scalable and cost effective diagnostic approach in patients with
genodermatoses.