Dr. Prameela Kantheti , M.Sc., Ph.D

Ph.D. - Indian Institute of Science, Bangalore - 1994
Postdoctoral Fellow -
The University of Michigan Medical School,
Ann Arbor, Michigan, USA - 1995-1998



Areas of interest:

Molecular genetics of human genetic disorders; Mouse models for human genetic disorders.

Diagnostic services:

DNA diagnostics of single gene disorders .

Selected publications:

1. Khosla S., Kantheti P., Brahmachari V. and Chandra H.S. A male-specific nuclease-resistant chromatin fraction in the mealybug Planococcus lilacinus. Chromosoma 104: 386-392 (1996).
2. Kantheti P., Qiao X., Diaz M. E., Peden A. A., Meyer G. E., Carskadon S. L., Robinson M. S., Noebels J. L. and Burmeister M. Mutation in AP-3 delta in the mocha mouse links endosomal cargo transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 21: 111-122 (1998).
3. Puttagunta R., Gordon L. A., Meyer G. E., Kapfhamer D., Lamerdin J. E., Kantheti P., Portman K. M., Chung W. K., Jenne D. E., Olsen A. S. and Burmeister M. Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints. Genome Research 10: 1369-1380 (2000).
4. Kantheti P., Diaz M., Peden A, Seong E., Dootz G., Dolan D. F., Robinson M. S., Noebels J. F., Burmeister M. Genetic and Phenotypic Analysis of the Mouse Mutantmh2J, an Ap3d allele caused by IAP element insertion. MammalianGenome 14: 157-167 (2003).
5. Murali D. Bashyam , Ajay K. Chaudhary, E. Chandrakanth Reddy, A. Radha Rama Devi, G.R. Savithri, R. Ratheesh, Leena Bashyam, E. Mahesh, Dity Sen, Ratna Puri, Inder C. Verma, Sheela Nampoothiri, Sunitha Vaidyanathan, Mataguru D. Chandrashekar,Prameela Kantheti.. Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA. Molecular Genetics and Metabolism 100: 96-99 (2010).
6.Sikora KM, Nosavanh LM, Kantheti P, Burmeister M, Hortsch M. Expression of caytaxin protein in cayman ataxia mouse models correlates with phenotype severity. PLoS One. 7(11):e50570. doi: 10.1371/journal.pone.0050570 (2012).