Hair colour: Unterschied zwischen den Versionen

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Zeile 3: Zeile 3:
 
* Black Eumelanin (white to black)
 
* Black Eumelanin (white to black)
 
* Brown Eumelanin (white to yellowish brown)
 
* Brown Eumelanin (white to yellowish brown)
−
* Pheomelanin (white to red) - MC1R gene, alleles Arg151Cys, Arg160Trp, Asp294His, Arg142His - also inhibit melanin production in skin, resulting in a paler skin.
+
* Pheomelanin (white to red)
 +
 
 +
Pseudo-genes encoding this:
 +
 
 +
* [BTB] Black-to-Brown Eumelanin balance (black - brown - yellowish brown)
 +
* [EMA] Amount of Eumelanin (white - fully coloured)
 +
* [PMA] Amount of Pheomelanin (white - red)
 +
* [BMA] Amount of black Eumelanin (white - black)
 +
 
 +
EMA gene is the same as for [[eye colour]], so that dark brown eyes can't appear with light hair (brown and amber eyes still can, by a combination of low EMA level and high STP levels in eye colourisation)
  
 
Typical combinations:
 
Typical combinations:
Zeile 10: Zeile 19:
 
* Brown Eumelanin only -> Brown
 
* Brown Eumelanin only -> Brown
 
* Pheomelanin only -> Red
 
* Pheomelanin only -> Red
−
* Black Eumelanin & Brown Eumelanin -> Dark Brown
 
 
* Black Eumelanin & Pheomelanin -> Chestnut Brown
 
* Black Eumelanin & Pheomelanin -> Chestnut Brown
 
* Brown Eumelanin & Pheomelanin -> Auburn
 
* Brown Eumelanin & Pheomelanin -> Auburn
Zeile 16: Zeile 24:
 
* negligable amount of all -> White
 
* negligable amount of all -> White
  
−
Common MC1R (melanocortin 1 receptor) gene (chromosome 16q24.3) variants:
+
=== Additional notes ===
 +
 
 +
Common MC1R (melanocortin 1 receptor; 317 positions) gene (chromosome 16q24.3) variants:
 +
* N29insA - red
 +
* Phe45Leu (rs61996344)
 +
* Ala57Val (rs117952179)
 +
* Val60Leu (rs1805005) - blonde
 +
* Arg67Gln (rs34090186)
 +
* Ser83Pro (rs34474212)
 +
* Asp84Glu (rs1805006)
 +
* Gly89Arg (rs34540312)
 +
* Val92Met (rs2228479) - red
 +
* Thr95Met (rs34158934)
 +
* Leu99Pro (rs192276807)
 +
* Gly104Ser (rs2229617)
 +
* Ile120Thr (rs33932559)
 +
* Arg142His (rs11547464)
 
* Arg151Cys (rs1805007) - red
 
* Arg151Cys (rs1805007) - red
 +
* Arg151Gly (rs1805007)
 +
* Arg151His (rs149922657)
 +
* Y152OCH
 +
* Ile155Thr (rs1110400)
 +
* Val156Leu (rs3212365)
 +
* Thr157Ile (rs104894524)
 +
* Pro159Thr (rs104894523)
 
* Arg160Trp (rs1805008) - red
 
* Arg160Trp (rs1805008) - red
−
* Asp294His (rs1805009) - red
 
 
* Arg142His (rs11547464) - red
 
* Arg142His (rs11547464) - red
−
* Val60Leu (rs1805005) - blonde
+
* Ile155Thr (rs1110400)
−
* Val92Met (rs2228479) - red
+
* Val156Leu (rs3212365)
 +
* Thr157Ile (rs104894524)
 +
* Pro159Thr (rs104894523)
 +
* Arg160Trp (rs1805008)
 
* Arg163Gln (rs885479) - blonde
 
* Arg163Gln (rs885479) - blonde
 +
* Ala166Gly (rs35040147)
 +
* Ala171Ser (rs35784916)
 +
* Phe196Leu (rs3212366)
 +
* Leu211Val (rs188462456)
 
* His260Pro
 
* His260Pro
−
* Asp84Glu (rs1805006)
+
* Thr272Met (rs12102534)
−
* 537insC
+
* Asp294His (rs1805009) - red
−
* IIe155Thr (rs1110400)
+
* Thr314Thr (rs2228478)
−
* rs8045560
 
−
* rs3212346
 
−
* Y152OCH
 
−
* N29insA - red
 
 
Uncommon variants:
 
Uncommon variants:
 
* Arg307Gly - Neanderthal variant
 
* Arg307Gly - Neanderthal variant
 +
* Phe147Delta
  
−
OCA2 gene variants:
+
OCA2 gene (chromosome 15q11.2–12) variants:
−
* rs1800407 - red
+
* Arg305Trp (rs1800401)
−
* rs1800401
+
* Arg419Gln (rs1800407) - red
 
* rs16950821
 
* rs16950821
 
* rs7174027
 
* rs7174027
Zeile 68: Zeile 102:
 
* rs4959270 - black
 
* rs4959270 - black
  
−
TYRP1 gene variants:
+
TYRP1 gene (chromosome 9p23) variants:
 
* rs1408799
 
* rs1408799
 
* rs2733832
 
* rs2733832
 
* rs683
 
* rs683
 +
 +
TYRP2 gene (chromosome 13q31–32) variants:
  
 
TPCN2 gene variants:
 
TPCN2 gene variants:
Zeile 79: Zeile 115:
 
* rs1011176
 
* rs1011176
  
−
TYR gene variants:
+
TYR gene (chromosome 11q14–21) variants:
−
* rs1042602
+
* Ser192Tyr (rs1042602)
 +
* Tyr192Ser - albino?
 +
* Arg402Gln (rs1126809) - albino?
 
* rs1393350 - brown
 
* rs1393350 - brown
  

Aktuelle Version vom 12. April 2012, 08:36 Uhr

Melanin levels (only two of those can be on "high" at once, one from the father and one from the mother):

  • Black Eumelanin (white to black)
  • Brown Eumelanin (white to yellowish brown)
  • Pheomelanin (white to red)

Pseudo-genes encoding this:

  • [BTB] Black-to-Brown Eumelanin balance (black - brown - yellowish brown)
  • [EMA] Amount of Eumelanin (white - fully coloured)
  • [PMA] Amount of Pheomelanin (white - red)
  • [BMA] Amount of black Eumelanin (white - black)

EMA gene is the same as for eye colour, so that dark brown eyes can't appear with light hair (brown and amber eyes still can, by a combination of low EMA level and high STP levels in eye colourisation)

Typical combinations:

  • Black Eumelanin only -> Black
  • Brown Eumelanin only -> Brown
  • Pheomelanin only -> Red
  • Black Eumelanin & Pheomelanin -> Chestnut Brown
  • Brown Eumelanin & Pheomelanin -> Auburn
  • low amount of all -> Blonde
  • negligable amount of all -> White

Additional notes[Bearbeiten | edit source]

Common MC1R (melanocortin 1 receptor; 317 positions) gene (chromosome 16q24.3) variants:

  • N29insA - red
  • Phe45Leu (rs61996344)
  • Ala57Val (rs117952179)
  • Val60Leu (rs1805005) - blonde
  • Arg67Gln (rs34090186)
  • Ser83Pro (rs34474212)
  • Asp84Glu (rs1805006)
  • Gly89Arg (rs34540312)
  • Val92Met (rs2228479) - red
  • Thr95Met (rs34158934)
  • Leu99Pro (rs192276807)
  • Gly104Ser (rs2229617)
  • Ile120Thr (rs33932559)
  • Arg142His (rs11547464)
  • Arg151Cys (rs1805007) - red
  • Arg151Gly (rs1805007)
  • Arg151His (rs149922657)
  • Y152OCH
  • Ile155Thr (rs1110400)
  • Val156Leu (rs3212365)
  • Thr157Ile (rs104894524)
  • Pro159Thr (rs104894523)
  • Arg160Trp (rs1805008) - red
  • Arg142His (rs11547464) - red
  • Ile155Thr (rs1110400)
  • Val156Leu (rs3212365)
  • Thr157Ile (rs104894524)
  • Pro159Thr (rs104894523)
  • Arg160Trp (rs1805008)
  • Arg163Gln (rs885479) - blonde
  • Ala166Gly (rs35040147)
  • Ala171Ser (rs35784916)
  • Phe196Leu (rs3212366)
  • Leu211Val (rs188462456)
  • His260Pro
  • Thr272Met (rs12102534)
  • Asp294His (rs1805009) - red
  • Thr314Thr (rs2228478)

Uncommon variants:

  • Arg307Gly - Neanderthal variant
  • Phe147Delta

OCA2 gene (chromosome 15q11.2–12) variants:

  • Arg305Trp (rs1800401)
  • Arg419Gln (rs1800407) - red
  • rs16950821
  • rs7174027
  • rs4778138 - brown
  • rs4778241
  • rs7495174

ASIP (agouti signaling protein) gene variants:

  • rs1015362 - blonde-red
  • rs6058017
  • rs2378249

HERC2 (hect domain and RLD 2) gene variants:

  • rs12913832 - black
  • rs7183877
  • rs11635884
  • rs916977 - red
  • rs8039195 - red

SLC45A2 gene variants:

  • rs16891982 - black
  • rs28777 - black
  • rs26722 - black

IRF4 gene variants:

  • rs12203592 - black
  • rs9378805

EXOC2 gene variants:

  • rs4959270 - black

TYRP1 gene (chromosome 9p23) variants:

  • rs1408799
  • rs2733832
  • rs683

TYRP2 gene (chromosome 13q31–32) variants:

TPCN2 gene variants:

  • rs35264875
  • rs3829241
  • rs2305498
  • rs1011176

TYR gene (chromosome 11q14–21) variants:

  • Ser192Tyr (rs1042602)
  • Tyr192Ser - albino?
  • Arg402Gln (rs1126809) - albino?
  • rs1393350 - brown

KITLG gene variants:

  • rs12821256

SLC24A4 gene variants:

  • rs12896399
  • rs4904868 - blonde
  • rs2402130 - dark blonde
Abgerufen von „https://notebook.martin-sojka.de/index.php?title=Hair_colour&oldid=1721“