Here I present: “Macular Dystrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=H35.30
INTRODUCTION.
In genetics, DNase I hypersensitive sites (DHS) are regions of chromatin that are sensitive to cleavage by the DNase I enzyme. In these specific regions of the genome, chromatin has lost its condensed structure, exposing the DNA and making it accessible. This raises the availability of DNA to degradation by enzymes, such as DNase I. These accessible chromatin zones are functionally related to transcriptional activity, since this remodeled state is necessary for the binding of proteins such as transcription factors.
There is evidence that macular dystrophy can be caused by mutation in the DHS6S1 gene on cytogenetic location 6q16.2 and genomic coordinates 6:99,592,885-99,593,339. The screenshot of the DHS6S1 gene 455 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides DHS6S1 in the 6q16.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:99,369,401 | COQ3 | Coenzyme Q3, methyltransferase |
| 6:99,398,050 | PNISR | PNN-interacting serine/arginine-rich protein |
| 6:99,432,325 | USP45 | Ubiquitin-specific protease 45 |
| 6:99,542,387 | CCNC | Cyclin C |
| 6:99,592,885 | DHS6S1 | DNase1 hypersensitivity, chromosome 6, site 1 |
| 6:99,606,833 | PRDM13 | PR domain-containing protein 13 |
| 6:99,918,519 | MCHR2 | Melanin-concentrating hormone receptor 2 |
| 6:100,000,001 | GEFSP8 | Generalized epilepsy with febrile seizures plus, type 8 |
| 6:100,385,009 | SIM1 | Single-minded, Drosophila, homolog of, 1 |
| 6:100,508,194 | ASCC3 | Activating signal cointegrator 1 complex, subunit 3 |
