Pousali Mukherjee 29.05.09

The Genetic Basis of Autoimmune Thyroid Disease : A Bioinformatics Approach Project Done By: POUSALI MUKHERJEE M.Sc. In Genetic Engineering 2nd Year 4th Semester Roll No.:072101887019 Registration no.: 072101887201019 Institute of Genetic Engineering West Bengal University of Technology

Thyroid Gland The thyroid is one of the largest endocrine glands in the body. This gland is found in the neck inferior to (below) the thyroid cartilage (also known as the Adam’s Apple in men) and at approximately the same level as the cricoid cartilage The thyroid controls how quickly the body burns energy, makes proteins, and how sensitive the body should be to other hormones. The thyroid is controlled by the hypothalamus and pitutary.

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Thyroxine Triiodothyronine

T3 and T4 Regulation ,[object Object],[object Object],[object Object]

Thyroid Dysfunction ,[object Object],Hyperthyroidism Hypothyroidism ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Types Thyroid Dysfunction ,[object Object],[object Object],[object Object],[object Object],[object Object]

Contd.. ,[object Object],[object Object],[object Object],[object Object],[object Object]

Contd.. ,[object Object],[object Object],[object Object],[object Object]

Thyroid Dysfunction and Autoimmunity ,[object Object],[object Object]

The Genetics of Autoimmune Thyroid Disease (AITD) ,[object Object],[object Object],[object Object],[object Object]

Is There Any Relationship Between AITD and Gender? ,[object Object],[object Object],[object Object]

Relation of Thyroid Dysfunction With Age And Sex

Why Females are More Affected With AITD? ,[object Object],[object Object],[object Object],XY XX X X XX Daughter

X-chromosome Inactivation ,[object Object],[object Object],[object Object]

Contd.. ,[object Object],[object Object],[object Object],[object Object],However deciding which chromosome becomes inactive is complex and appears to be mostly random

X-Chromosome Inactivation and AITD ,[object Object],[object Object],[object Object],[object Object],[object Object]

Association of FOXP3 and AITD ,[object Object],[object Object],[object Object],[object Object]

Location and Related SNPs Ideogram Genes/ 500kb mRNA Genotyped SNPs

What is the normal function of FOXP3 gene? ,[object Object],[object Object],[object Object],[object Object],[object Object]

How are changes in the FOXP3 gene related to AITD? ,[object Object],[object Object],[object Object],[object Object],Genomic regions, transcripts, and products of FOXP3 gene

FOXP3 gene and its relation with X-linked autoimmunity ,[object Object],[object Object],[object Object],[object Object],[object Object],Front Side Top

Conserved domains on forkhead box P3 (FOXP3)isoform a [ Homo sapiens ] ,[object Object],[object Object],[object Object],[object Object]

Gene Model Information 2397 RNA size No Selenocysteine No Stop codon in genome Yes Has stop codon No Frame shift in genome Yes Has start codon No CDS single in intron: 1296 ORF size No CDS single in 3' UTR 12 Exon count No Nonsense-mediated-decay Coding Category

Orthologous Genes in Other Species ,[object Object],[object Object],[object Object]

FOXP3 Gene and Ethnicity ,[object Object],[object Object]

Discussion ,[object Object],[object Object],[object Object],[object Object]

Conclusion ,[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Reference

Acknowledgement ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Pousali Mukherjee 29.05.09

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Pousali Mukherjee 29.05.09