Genomic coordinate 8:22,114,419
Here I present: “Papular Atrichia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HR) 丘疹病變。icd10=L65.8
INTRODUCTION.
Papular atrichia is characterized by hair loss soon after birth and the development, years later, of a diffuse papular rash over the entire skin surface. The papular rash distinguishes it from alopecia universalis.
Alopecia universalis is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair.
There is evidence that both papular atrichia and alopecia univeralis are caused by mutated HR gene. The HR gene encodes a nuclear receptor corepressor (Enzyme Commission number: EC 1.11.14.65) that is critical for the maintenance of hair growth. The HR gene (EC 1.11.14.65) is encoded on cytogenetic location 8p21.3 and genomic coordinates 8:22,114,419-22,131,052. The screenshot of the HR gene 16,634 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HR in the 8p21.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:22,039,672 | FGF17 | Fibroblast growth factor 17 |
| 8:22,048,931 | EPB49 | Erythrocyte membrane protein band 49 (dematin) |
| 8:22,089,150 | FHIP2B | FHF complex subunit hook-interacting protein 2B |
| 8:22,106,878 | NUDT18 | Nudix hydrolase 18 |
| 8:22,114,419 | HR | HR lysine demethylase and nuclear receptor corepressor |
| 8:22,130,458 | HRURF | HR upstream open reading frame, U2HR |
| 8:22,138,020 | REEP4 | Receptor expression-enhancing protein 4 |
| 8:22,146,830 | LGI3 | Leucine-rich gene, glioma-inactivated, 3 |
| 8:22,157,383 | SFTPC | Surfactant, pulmonary-associated protein C |
| 8:22,165,372 | BMP1 | Bone morphogenetic protein-1 |
