ACTIVITY 1

1. What are the MIM ID number and the gene symbol for X-linked dystonia
parkinsonism?
MIM ID #: 314250
Official Gene Symbol: DYT3
2. What chromosome and what part of it is affected?
Location: Xq13.1
Chromosome involved: X
Long arm position of chromosome = q
Particular Region: 13.1
3. What is the mutation involved in X-linked dystonia parkinsonism?
XDP is most likely caused by mutation in a regulatory region of a gene
within the critical interval or by a structural rearrangement.
Structural rearrangement or mutations in the TAF1 within its critical interval
causes X- linked dystonia-parkinsonism. It is stated that the mutation occurs
in the TAF1 and the cause is the reduced expression of the neuron-specific
isoforms.
The mutation that causes X-linked dystonia-parkinsonism is the insertion of
an SVA retrotransposon in the 32nd intron of TAF1.
ACTIVITY 2
What is the location of the DYT3 protein in the X chromosome?
Annotation Release 106 (released on 2/24/14)
What is the molecular weight of the protein?
What is the total number of genes found on the chromosome?
ACTIVITY 3
What is the official gene symbol of X-linked dystonia parkinsonism according
to its Entrez Gene record? What is its official name?

Official Symbol: TAF1provided by HGNC

Official Full Name: TAF1 RNA polymerase II, TATA box binding protein (TBP)associated factor, 250kDaprovided by HGNC
Is the GenBank record up to date? What was it modified?
Compare the data gathered from the two GenBank records. Why does the
record of AY623109.1 have more base pairs than the other record? Write the
number of base pairs from the two records.
Using the FEATURES section of the GenBank record of AY623109.1,
determine how long the coding sequence is.
ACTIVITY 5 JMOL