Here I present: “Red Hair Color”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 紅色頭髮顏色。(SHEP8).
INTRODUCTION.
Multiple genes influence normal human skin, hair, and eye pigmentation (SHEP).
Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association is determined by variation at the MC1R locus and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 encompasses pigment variation influenced by the TYR gene; SHEP4, that influenced by the SLC24A5 gene. Variation in the SLC45A2 and SLC24A4 genes result in the phenotypic associations SHEP5 and SHEP6, respectively. Sequence variation thought to affect expression of KITLG results in the SHEP7 phenotypic association. SHEP8 is associated with variation in the IRF4 gene. Polymorphism in the 3-prime untranslated region of the ASIP gene influences the SHEP9 association. The SHEP10 association comprises variation in the TPCN2 gene, and SHEP11 is associated with polymorphism near the TYRP1 gene.
There is evidence that variation in the interferon regulatory factor-4 (IRF4) gene on cytogenetic location 6p25.3 and genomic coordinates 6:391,752-411,443 influences skin, hair, and eye pigmentation (SHEP8). The screenshot of the IRF4 gene 19,692 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides IRF4 in the 6p25.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:1 | DEL6pter | Chromosome 6pter-p24 deletion syndrome |
| 6:1 | INTLQ3 | Intelligence quantitative trait locus 3 |
| 6:1 | LRSL | Larsen-like syndrome |
| 6:292,487 | DUSP22 | Dual-specificity phosphatase 22 |
| 6:391,752 | IRF4 | Interferon regulatory factor-4 |
| 6:485,154 | EXOC2 | Exocyst complex component 2 |
| 6:655,939 | HUS1B | HUS1 checkpoint clamp component B |
| 6:1,312,098 | FOXQ1 | Forkhead box Q1 |
| 6:1,389,576 | FOXF2 | Forkhead box F2 |
| 6:1,605,531 | FOXCUT | FOXC1 upstream transcript, noncoding |
