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From Wikipedia, the free encyclopedia

TCHH
Identifiers
AliasesTCHH, THH, THL, TRHY, trichohyalin, UHS3
External IDsOMIM: 190370; MGI: 2177944; GeneCards: TCHH; OMA:TCHH - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007113

NM_001163098

RefSeq (protein)

NP_009044

NP_001156570

Location (UCSC)Chr 1: 152.11 – 152.12 MbChr 3: 93.35 – 93.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Trichohyalin is a protein that in mammals is encoded by the TCHH gene.[5]

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  • How Does Hair Know When to Stop Growing?
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Transcription

You’re probably quite happy that your armpit hair isn’t dragging on the floor. So it’s good that there’s a system to prevent that. But what is that system? Us humans grow hair all over our bodies -- except on our palms and the soles of our feet. But some of it, like leg hair, stops growing, while the hair on our heads just seems to grow out forever. That’s because every hair on your body goes through the same cycle -- growing for a while and then falling out -- but each type of hair spends a different amount of time growing, and grows at a different speed. Every hair begins the same way, in a phase of the cycle called anagen. During anagen, blood flow starts to ramp up at the base of the follicle, feeding oxygen to specialized stem cells. These cells begin rapidly dividing and producing keratinocytes, which form the root of the hair. As the expanding mass of keratinocytes is pushed toward the surface of the skin, the cells die, releasing a protein called keratin, which holds the strand of hair together. Eventually that strand pops out of your skin. So the visible part of the hair is entirely dead, which is why, thankfully, it does not hurt to get your hair cut -- although try explaining that to a three-year-old. During anagen, hair can grow up to 1 and a quarter centimeters every month, depending on where it’s located on your body. The second phase is called catagen, and lasts about two weeks. Here, the blood supply is cut off at the bottom of the follicle, which stops the production of new keratinocytes. So for that particular hair, the party is over. The follicle then shrinks to about a sixth of its original size, and then the existing hair strand is pushed closer the surface. The third phase is called telogen, otherwise known as the resting phase, where the follicle remains dormant for one to four months. Finally, the hair is released, or shed, when the follicle dilates, and starts the anagen phase again. So, how long a hair on your body gets, depends on how long it’s in the anagen phase, and how fast it grows during that time. The hair on your scalp, for example, stays in anagen for two to six years, which is why it can grow so long. Other hair types, like eyebrows and eyelashes and body hair have a short anagen phase -- only 30 to 45 days. But they also grow much more slowly, with eyebrows, for instance, growing only 4.2 millimeters every month. This is my nice eyebrow closeup. Hey... As for how your hairs know when to grow and when to stop, that’s something scientists are still trying to figure out. It is known that genetics can lead to longer or shorter anagen phases in certain hair types. But the current thinking is that your hairs get their instructions -- by way of chemical growth signals -- from stem cells in the skin. And considering how extremely inconvenient it would be for all of the hairs on your body and all mammals’ bodies to just continue growing forever, it makes sense that there’s a system for making sure they don’t grow too long. And you can thank Griffin Taylor, a supporter on Patreon, for asking us this question! If you’d like to submit questions to be answered, or get these Quick Questions a few days early, you can check out patreon.com/scishow.

Discovery

In 1903 the name trichohyalin was assigned to the granules of the inner root sheath (IRS) of hair follicles discovered by Hans Vörner.[6] In 1986 the name was reassigned to a protein isolated from sheep wool follicles.[7]

Gene location

The human TCHH is located on the long (q) arm of chromosome 1 at region 2 band 1 sub-band 3 (1q21.3), from base pair 152,105,403 to base pair 152,116,368 (map).[8] This region in chromosome 1q21 is known as the epidermal differentiation complex, since it harbors over fifty other genes involved in keratinocyte differentiation.

Gene coding sequence contains 5829 nucleotides.[9] Gene orthologs were identified in most mammals including mice, chickens, rats, pigs, sheep, horses and other species.[10]

Protein localisation

Trichohyalin is highly expressed in the inner root sheath cells of the hair follicle and medulla.[11] It was also detected in the granular layer and stratum corneum of normal epidermis,[12] newborn human foreskin epidermis, the hard palate, in the nail matrix, the filiform papillae of dorsal tongue epithelium and in rodent forestomach.[13]

Function

The protein forms frequent links between the heads and tails of the keratin chains and, thus, participates in keratin intermediate filaments (KIF) inter-filamentous cross-linking. It also carries a function of a major reinforcement cross-bridging protein for the cell envelope (CE) barrier structure of the IRS and participates in coordination of CE structure.[11]

Overall, trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues.[11]

Structure

Trichohyalin belongs to the S100-fused protein family. It is a monomer, containing 1943 amino acids,[14] and has elongated (>200 nm) single-stranded alpha-helical conformation based on its unusually high content of charged residues.[15]

Molecular mass of the human trichohyalin is 253925 Da.[14]

The protein includes nine domains. Domain 1 contains two EF-hand calcium-binding domains.  Domains 2-4, 6, and 8 are almost entirely alpha-helical, configured as a series of peptide repeats of varying regularity, and are thought to form a single-stranded alpha-helical rod stabilised by ionic interactions. Domain 6 is the most regular and may bind KIF directly by ionic interactions. Domains 5 and 7 are less well organised and may induce folds in the molecule. Domain 9 contains the C-terminus, conserved among different species.[14][15]

Post-translational modifications

Interactions

TCHH protein is extensively cross-linked to itself in the IRS tissue as well as to keratin intermediate filaments (KIF). All TCHH-keratin links involved only domain 6 or 8 sequences.[11]

The protein can also form cross-links to all other CE proteins including involucrin, envoplakin, keratin, repetin, desmoplakin, SPR1, SPR2, and LEP.[11]

TCHH-TCHH and TCHH-CE protein links are distributed among domains 2–5, but are uncommon in domains 6 and 8. Most intra-THH cross-links occurred in the least organised domain 5 region at a 3.5-fold higher frequency.[11]

Clinical significance

Trichohyalin is associated with uncombable hair syndrome,[17] human alopecia areata[18] and also may be linked to curly hair phenotype in Europeans.[19]

A weak expression of the protein was discovered in the horny layer of psoriasis, ichthyosis, keratosis pilaris, porokeratosis, chronic dermatitis and callus.[20] The same level of trichohyalin expression was found in epidermal tumours (seborrheic keratosis, actinic keratosis, Bowen's disease, well-differentiated squamous cell carcinoma) and follicular tumours (trichoepithelioma, keratotic basal cell epithelioma, proliferating trichilemmal tumour, trichilemmoma, pilomatricoma and keratoacanthoma).[20]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159450Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052415Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Trichohyalin".
  6. ^ Voerner, H. (1903). "On trichohyalin. A study of the anatomy of the hair root". Dermatol. Z. 10: 357–376.
  7. ^ Rothnagel JA, Rogers GE (April 1986). "Trichohyalin, an intermediate filament-associated protein of the hair follicle". The Journal of Cell Biology. 102 (4): 1419–29. doi:10.1083/jcb.102.4.1419. PMC 2114164. PMID 3958055.
  8. ^ "TCHH trichohyalin [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-11-10.
  9. ^ Bank, RCSB Protein Data. "RCSB PDB - Gene View - TCHH - trichohyalin". {{cite journal}}: Cite journal requires |journal= (help)[permanent dead link]
  10. ^ "ortholog_gene_7062[group] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-11-10.
  11. ^ a b c d e f Steinert PM, Parry DA, Marekov LN (October 2003). "Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth". The Journal of Biological Chemistry. 278 (42): 41409–19. doi:10.1074/jbc.M302037200. PMID 12853460.
  12. ^ Hamilton EH, Payne RE, O'Keefe EJ (May 1991). "Trichohyalin: presence in the granular layer and stratum corneum of normal human epidermis". The Journal of Investigative Dermatology. 96 (5): 666–72. doi:10.1111/1523-1747.ep12470590. PMID 1708794.
  13. ^ O'Keefe EJ, Hamilton EH, Lee SC, Steinert P (July 1993). "Trichohyalin: a structural protein of hair, tongue, nail, and epidermis". The Journal of Investigative Dermatology. 101 (1 Suppl): 65S–71S. doi:10.1111/1523-1747.ep12362866 (inactive 2024-04-26). PMID 7686953.{{cite journal}}: CS1 maint: DOI inactive as of April 2024 (link)
  14. ^ a b c "TCHH - Trichohyalin - Homo sapiens (Human) - TCHH gene & protein". www.uniprot.org. Retrieved 2018-11-10.
  15. ^ a b Lee SC, Kim IG, Marekov LN, O'Keefe EJ, Parry DA, Steinert PM (June 1993). "The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein". The Journal of Biological Chemistry. 268 (16): 12164–76. doi:10.1016/S0021-9258(19)50322-2. PMID 7685034.
  16. ^ a b Tarcsa E, Marekov LN, Andreoli J, Idler WW, Candi E, Chung SI, Steinert PM (October 1997). "The fate of trichohyalin. Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases". The Journal of Biological Chemistry. 272 (44): 27893–901. doi:10.1074/jbc.272.44.27893. PMID 9346937.
  17. ^ Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJ, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC (December 2016). "Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome". American Journal of Human Genetics. 99 (6): 1292–1304. doi:10.1016/j.ajhg.2016.10.004. PMC 5142115. PMID 27866708.
  18. ^ Leung MC, Sutton CW, Fenton DA, Tobin DJ (October 2010). "Trichohyalin is a potential major autoantigen in human alopecia areata". Journal of Proteome Research. 9 (10): 5153–63. doi:10.1021/pr100422u. PMID 20722389.
  19. ^ Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG (November 2009). "Common variants in the trichohyalin gene are associated with straight hair in Europeans". American Journal of Human Genetics. 85 (5): 750–5. doi:10.1016/j.ajhg.2009.10.009. PMC 2775823. PMID 19896111.
  20. ^ a b Lee SC, Lee JB, Seo JJ, Kim YP (March 1999). "Expression of trichohyalin in dermatological disorders: a comparative study with involucrin and filaggrin by immunohistochemical staining". Acta Dermato-Venereologica. 79 (2): 122–6. doi:10.1080/000155599750011336. PMID 10228630.

Further reading

This page was last edited on 26 April 2024, at 04:35
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