Here I present: “Systemic Lupus Erythematosus”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Lupus erythematosus is a collection of autoimmune diseases in which the human immune system becomes hyperactive and attacks healthy tissues. Symptoms of these diseases can affect many different body systems, including joints, skin, kidneys, blood cells, heart, and lungs. The most common and most severe form is systemic lupus erythematosus.
There is evidence that multiple genes are involved in the causation of systemic lupus erythematosus. On cytogenetic location 1p13.2 and genomic coordinates 1:113,813,811-113,871,759 protein tyrosine phosphatase, nonreceptor type-22 (PTPN22) is involved. The screenshot of PTPN22 gene 57,949 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PTPN22 in the 1p13.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:113,073,198 | LRIG2 | Leucine-rich repeats- and immunoglobulin domains-c protein 2 |
| 1:113,390,515 | MAGI3 | Membrane-associated guanylate kinase, WW and PDZ domains, 3 |
| 1:113,696,831 | PHTF1 | Putative homeodomain transcription factor 1 |
| 1:113,761,832 | RSBN1 | Round spermatid basic protein 1 |
| 1:113,813,811 | PTPN22 | Protein tyrosine phosphatase, nonreceptor-type 22 |
| 1:113,876,816 | BCL2L15 | BCL2-like 15 |
| 1:113,894,194 | AP4B1 | Adaptor-related protein complex 4, beta-1 subunit |
| 1:113,904,619 | DCLRE1B | DNA cross-link repair protein 1B |
| 1:113,929,324 | HIPK1 | Homeodomain-interacting protein kinase 1 |
| 1:113,979,474 | OLFML3 | Olfactomedin-like 3 |
