“Orofacial Cleft”, Victor McKusick, Mendelian Inheritance in Man, 1966. 口腔面部裂隙。(OFC10).

Here I present: “Orofacial Cleft”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 口腔面部裂隙。(OFC10).

INTRODUCTION.

SUMO proteins (such as SUMO1) and ubiquitin posttranslationally modify numerous cellular proteins and affect their metabolism and function. However, unlike ubiquitination, which targets proteins for degradation, sumoylation participates in a number of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability.

Small ubiquitin-related modifier type-1 (SUMO1) is a protein that in humans is encoded by the SUMO1 gene. Most cleft genes have a sumoylation component.  Analysis of chromosomal anomalies in patients has led to the identification and confirmation of SUMO1 as a cleft lip and palate locus.

There is evidence that orofacial cleft type-10 (OFC10) is caused by mutation in the SUMO1 gene on cytogenetic location 2q33.1 and genomic coordinates 2:202,206,171-202,238,597 . The screenshot of the SUMO1 gene 32,427 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides SUMO1 in the 2q33.1 cytogenetic location are listed BENEATH.