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Normal Function

The TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family of proteins that form and organize structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of α-tubulin and a similar protein called beta-tubulin (β-tubulin) that is produced from a different gene. Microtubules are necessary for cell division and movement.

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Most cells produce α-tubulin, but the protein is found in highest amounts in the developing brain. During brain development, α-tubulin partners with β-tubulin to form microtubules that move nerve cells (neurons) to their proper location (neuronal migration). Microtubules form scaffolding within the cell. The tubulin proteins that make up the microtubule are moved from one end of a microtubule to the other end. This protein transfer propels the microtubules in a specific direction, moving the cell.

Health Conditions Related to Genetic Changes

Isolated lissencephaly sequence

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Approximately 40 mutations in the TUBA1A gene have been found to cause isolated lissencephaly sequence (ILS). This condition is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals with ILS have severe neurological problems, including intellectual disability and recurrent seizures (epilepsy). Most of these mutations change single protein building blocks (amino acids) in the α-tubulin protein. The resulting abnormal α-tubulin cannot form microtubules or interact with other proteins. As a result, the overall function of microtubules is reduced. In the developing brain, this decrease in microtubule function impairs the normal migration of neurons and leads to a decrease in the formation of the brain's folds and grooves or a completely smooth appearance of the brain, resulting in the neurological problems characteristic of ILS.

More About This Health Condition

Lissencephaly with cerebellar hypoplasia

At least 10 mutations in the TUBA1A gene have been found to cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in lissencephaly and an unusually small and underdeveloped area of the brain called the cerebellum (cerebellar hypoplasia). The TUBA1A gene mutations that cause LCH change single amino acids in the α-tubulin protein. These altered proteins can still be incorporated into microtubules, but research suggests that these microtubules have decreased or abnormal function.

In the developing brain, impaired microtubule function prevents the normal migration of neurons. As a result, the normal folds and grooves of the brain do not form and the cerebellum and other brain structures do not develop properly. This impairment of brain development leads to intellectual disability, delayed overall development, movement problems, and other signs and symptoms of LCH.

More About This Health Condition

Other Names for This Gene

  • B-ALPHA-1
  • TBA1A_HUMAN
  • TUBA3
  • tubulin alpha-1A chain
  • tubulin alpha-3 chain
  • tubulin B-alpha-1
  • tubulin, alpha 1a
  • tubulin, alpha, brain-specific

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of TUBA1A

Catalog of Genes and Diseases from OMIM

References

  • Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N,Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, AmielJ, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. JMed Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug26. Citation on PubMed
  • Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Régal L,Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W. TUBA1Amutations: from isolated lissencephaly to familial polymicrogyria. Neurology.2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5. Citation on PubMed
  • Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S,Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronalmigration pathways converge on alpha tubulins. Hum Mol Genet. 2010 Jul15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12. Citation on PubMed or Free article on PubMed Central
  • Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ. Disease-associatedmutations in TUBA1A result in a spectrum of defects in the tubulin folding andheterodimer assembly pathway. Hum Mol Genet. 2010 Sep 15;19(18):3599-613. doi:10.1093/hmg/ddq276. Epub 2010 Jul 5. Citation on PubMed or Free article on PubMed Central
Band & Orchestra

Deanna Swoboda, former tubist with the internationally recognized Dallas Brass, is Assistant Professor of Music at Western Michigan University where she teaches tuba and euphonium and performs with the Western Brass Quintet, a resident faculty ensemble. Since 1994, Ms. Swoboda has toured the United States and Europe presenting concerts, master classes, and school residencies. She has performed with well-known artists such as Della Reece, Lionel Hampton, Bill Watrous, Michael Feinstein and Winton Marcellus. Dr antivirus pro 3 2 11. How to check dmg files free. As a former member of the Arizona Commission for the Arts, Indiana Young Audiences and Oregon Young Audiences Deanna continues performing educational music assemblies and school residencies respectively.

Swoboda holds degrees in tuba performance from the University of Idaho and Northwestern University, and is ABD for the Doctor of Musical Arts degree from Arizona State University. In addition to being a video artist for Silver Burdette-Ginn, Swoboda wrote, produced, organized, and performed on the band recruitment DVD “Band Blast Off!”, released in 2006. Her solo CD, “Deanna’s Wonderland,” was released on Summit Records in 1999. She will release her next children’s CD, “Tuba Tex: How the West was Fun” in spring 2008. Prior to her appointment at Western Michigan University, Swoboda taught at the University of Nevada Las Vegas, the University of Northern Iowa, University of Denver, University of Idaho, National Conservatory of Madrid (Spain), and Deutschen Tubaforum–Hammelberg (Germany).

What is the difference between a baritone and a euphonium?

The main difference is the bore size. The euphonium is conical (the tubing gradually gets bigger from the mouthpiece to the bell) and the baritone is cylindrical (it maintains a consistent bore size throughout the major portion of the instrument which means it has a brighter sound). The baritone is considered a small bore instrument. It is pitched in BBb and typically has three valves. It is a traditional instrument of the British brass band. The euphonium has a larger bore (and is conical) and has a darker sound. Euphoniums will have three or four valves.

What is a Conical Bore?

The tuba and euphonium are considered conical instruments. A conical instrument has a gradual taper (gradually gets larger through 2/3 of the tubing). They produce a more mellow tone quality.

Does my euphonium have a Compensating System?

A euphonium that has a compensating system has a fourth valve (operated by the left hand) and has extra tubing or “knuckles” on the back of valves 1, 2, and 3. Complete anatomy 3 4 – anatomy learning platforms. The fourth valve (positioned on the side of the instrument), in addition to the extra tubing makes it possible to play chromatic notes between the first and second partials. It also makes for much better intonation overall. The fingering system is such that you can play Db using 2/3, add the fourth valve and play the octave lower in tune. On a non-compensating instrument, you would not be able to play the same fingering for that low Db. For example, on a non-compensating instrument, you would have to play a half step lower (fingering 1/3) and adding the fourth valve to play a “sharp” Db. Also with a compensating instrument, you can now play the low B natural using 1, 2, 3, 4. With a compensating instrument you get better intonation, all of the chromatic notes from low to high and better fingering combinations. If you are going to purchase a euphonium, make sure you at least buy one with four valves (whether compensating or non-compensating). The euphonium with four valves is far superior to a three-valved instrument because it allows for better intonation.

What is a Sousaphone?

A brass instrument invented by composer and conductor, John Phillip Sousa and the instrument maker J. W. Pepper (Philadelphia). The design was adapted from the tuba and the helicon. In 1893, Pepper built an instrument that allowed the bell to be pointed upwards for the concert setting and forward for the march. He called it a “ sousaphone” to thank Sousa for his suggestions.

When was the valve invented?

The first valve was invented in 1815 by Heinrich Stolzel.

How many different keyed tubas are there?

There are four keys of tubas from which to choose. From the largest to the smallest you will find the BBb and CC contrabass tubas and the Eb, and F “bass” tubas. Junior High/Middle School and High School players will begin on the BBb contrabass tuba. It is a good instrument for providing the foundation of the band (playing the low notes). If a student decides to go to college and major in music then she/he may be asked by the professor to switch to CC tuba. The CC tuba is somewhat smaller (has less tubing) than the BBb tuba. The CC tuba is more agile and easier to facilitate in the upper register. The Eb and F tubas are used mainly for solo and high orchestral playing. These instruments are smaller and are much easier to facilitate in the upper register. High orchestra parts (written by Berlioz, Prokofiev, Mendhlesson and others) and solos written for bass tuba are much more fun and manageable on these Eb and F tubas.

How do I know what instrument to buy?

When buying a tuba or euphonium the main considerations should be the sound of the instrument when played, the ease of response, the durability, and the cost. You want to buy an instrument that “resonates” with you, the player. If you like the sound it produces and you are able to play it with relative ease (in tune) then it is worth considering. You also want to know that it will last and that will have resale value. There should be sufficient bracing on the instrument. The bracing protects the slides and the tubing from being damaged. Ask your private teacher or band director to assist you when buying an instrument. They can help decide which one is best for you.

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What about the mouthpiece?

The size of mouthpiece that you play with your tuba or euphonium is very important. A mouthpiece that fits properly to the instrument and also to the player can make a player’s job easier. A beginning student should use a smaller mouthpiece, especially if they are playing a smaller three-valved instrument. This allows the player to have more immediate response and a more focused sound. The more advanced player (and one with a larger instrument) will want a bigger mouthpiece for a more resonant sound in the low register but also something that allows ease and good intonation in the upper register.

How do I use the 4th valve on my tuba?

When used in alone or in combination with other valves, the 4th valve will provide better intonation. The other thing it does is allow all of the chromatic notes between low Bb and pedal BBb. The 4th valve tubing is just a bit longer overall than the 1st and 3rd valves depressed together. So, it will take the place of the 1st and 3rd combination and will be better in tune. Here are some fourth valve fingerings to try out on your BBb tuba:

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  • Low C – 4
  • Low B natural – 2, 4
  • Low Bb – open
  • Pedal F – 4
  • Pedal E – 2, 4
  • Pedal Eb – 1,2,4
  • Pedal D – 2, 3, 4
  • Pedal Db – 1, 3, 4
  • Pedal C – 1, 2, 3, 4
  • Pedal B natural (fake) 2, 3
  • Pedal Bb – open

Rotary or Piston Valves?

When deciding which is better, it is really up to the player. Piston valves move up and down while rotary valves (like the French horn valve) rotate in a circle. Some people say that rotary valves make for smoother player while pistons provide more of an openness and immediate response. The player has to determine their personal preference in this matter. Neither is “better or worse”, just different.

Care and maintenance?

Tuba 12 Major Scales And Fingerings

Super mario generations mod. It is important to treat your instrument with care. By keeping the instrument clean, the valves oiled, the slides greased, you will help the extend longevity of the instrument. Be sure to oil your valves at least twice a week, grease your slides once a month and have it professionally cleaned once a year. Do not drink or eat before you play UNLESS you brush your teeth! All of that will end up in your instrument and make for problems later. You can also purchase a mouthpiece brush and clean your mouthpiece once a week. This helps keep the instrument clean and playing well.





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