What is TTN gene mutation?
TTN gene mutations account for approximately one-quarter of all cases of familial dilated cardiomyopathy. These mutations result in the production of an abnormal titin protein, particularly isoforms that are found in cardiac muscle.
How many exons are in TTN gene?
363 exons
Titin is a giant vertebrate striated muscle protein with critical importance for myofibril elasticity and structural integrity. We show here that the complete sequence of the human titin gene contains 363 exons, which together code for 38 138 residues (4200 kDa).
Is TTN the largest gene?
TTN is the largest gene expressed in mammals. Its role in cardiomyopathy has greatly expanded in recent years. It has been implicated as the most common disease gene in up to 25% of patients with dilated cardiomyopathy.
Does everyone have the TTN gene?
Everyone has two copies of the TTN gene, one is inherited from the mother, the other one from the father. TMD is inherited in an autosomal dominant pattern, meaning that one mutated copy of the TTN gene is sufficient to cause the disease.
Where is TTN gene located?
The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been associated with different genetic disorders, including hypertrophic and dilated cardiomyopathy and several skeletal muscle diseases.
Which gene is upstream of titin?
firefly luciferase gene
The 5′-UTR of titin was subcloned downstream of an SV40 promoter and upstream of the firefly luciferase gene in a pGL3 reporter (Promega).
Is TTN genetic?
TTN (Titin) is a Protein Coding gene. Diseases associated with TTN include Myopathy, Myofibrillar, 9, With Early Respiratory Failure and Tibial Muscular Dystrophy, Tardive. Among its related pathways are Striated Muscle Contraction and Response to elevated platelet cytosolic Ca2+.
Is titin structural?
Titin is a giant structural sarcomeric protein with a molecular weight of more than 3800 kD. The largest human protein, it forms the third filament system in striated muscle along with actin and myosin. Single titin molecules span half sarcomeres from Z disks to M lines in skeletal and cardiac muscle.
How Many People Have titin gene muscular dystrophy?
But a mutation in the TTN gene (which makes the titin protein) can cause the heart to fail because it causes the heart muscle to become weakened and enlarged, meaning it can’t pump blood around the body efficiently. This condition is known as dilated cardiomyopathy, and it affects about 1 in 250 people worldwide.
What is the function of the TTN gene?
The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Slightly different versions (called isoforms) of titin are made in different muscles.
What is the PEVK region of the TTN gene?
In its central I-band region, the TTN gene contains numerous so called PEVK exons. Most PEVK-exons are 78 to 90 bp, encoding conserved 26 to 30 amino acid protien motifs. The central PEVK-region contains a 10.5-kb duplicated segment composed of 3 repeats (A, B, and C, Bang 2001 ); A and B measure 4,262 bp and are 99.7% similar.
What is the size of the I-band segment in TTN?
In TTN’s I-band region, a range of splice variants have been identified, encoding titin isoforms ranging in size from 27,000 to 33,000 residues. Effectively, this differential splicing controls the number of spring elements and the size of the titin I-band segments expressed.
What is the structure of the human titin gene?
The titin gene ( Gene Symbol TTN) is located on the long arm of human chromosome 2 (2q31). Since part of the gene is duplicated and since it contains a range of small exons, its structure is difficult to determine exactly. Bang et al. (2001) reported the complete sequence of the human titin gene to contain 363 exons, spread over 294 kb.