DOWN SYNDROME Also known as trisomy 21, is the most common autosomal aneuploidy in humans About 75% of the nondisjunction events that cause Down syndrome are maternal in origin, most arising in meiosis I. 

TLS Online TPP Program

#Id: 3306

#Unit 3. Fundamental Processes

Unlike base excision repair, the nucleotide excision repair enzymes do not recognize any particular lesion. Rather, this system works by recognizing distortions to the shape of the double helix, such as those

caused by a thymine dimer or by the presence of a bulky chemical adduct on a base.

TLS Online TPP Program

#Id: 3309

#Unit 3. Fundamental Processes

Nucleotide excision repair in human cells. 

A DNA lesion that causes distortion of the double helix, such as a thymine-thymine dimer, is initially recognized by a complex of the XP-C (xeroderma pigmentosum C protein) and 23B proteins.

TLS Online TPP Program

#Id: 3311

#Unit 3. Fundamental Processes

Not only is nucleotide excision repair capable of mending damage throughout the genome, but it is also capable of rescuing RNA polymerase, the progression of which has been arrested by the presence of a lesion in the transcribed (template) strand of a gene, this phenomenon, known as transcription-coupled repair.

TLS Online TPP Program

#Id: 3328

#Unit 3. Fundamental Processes

The significance of transcription-coupled repair is that it focuses repair enzymes on DNA (genes) being actively transcribed.

TLS Online TPP Program

#Id: 3330

#Unit 3. Fundamental Processes

Central to transcription-coupled repair in eukaryotes is the general transcription factor TFIIH.

TLS Online TPP Program

#Id: 3331

#Unit 3. Fundamental Processes

TFIIH is responsible for two separate functions: 

Its strand-separating helicases melt the DNA around a lesion during nucleotide excision repair (including transcription-coupled repair) and also help to open the DNA template during the process of gene transcription.