标题: FOXC2 Gene Mutations [打印本页] 作者: choi 时间: 9-18-2018 16:43 标题: FOXC2 Gene Mutations Lisa sanders, Call Your Grandmother. After a day of sightseeing, the young man's leg swelled terribly. Had he caught something while traveling? New York Times Magazine, Sept 16, 2018. https://www.nytimes.com/2018/09/ ... ught-something.html
My comment:
(a) This is about a very rare, but not new, genetic mutation.
(b)
(i) FOXC2 gene (full name: forkhead box C2). Genetics Home Reference, National Library of Medicine, US National Institute of Health, undated https://ghr.nlm.nih.gov/gene/FOXC2
("This protein is a transcription factor [like any other Fox proteins]* * * Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels)")
(ii) Sridhar Hannenhalli and Klaus H Kaestner, The Evolution of Fox Genes and Their Role in Development and Disease. Nature Review Genetics, 10: 233-240 (2009) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733165/
("The forkhead box, or Fox, gene family of transcriptional regulators is an evolutionarily ancient gene family that is named after the Drosophila melanogaster gene fork head (fkh). Mutations in fkh cause defects in head fold involution during embryogenesis, resulting in a characteristic spiked head appearance in adult flies. Hundreds of Fox genes have been identified in species ranging from yeasts to humans, and have been classified into subfamilies, such as FoxA and FoxP") (citation omitted).
This explains why the gene, actually its mutation, was named forkhead (whose photo I can not find in the Web).
(c)
(i) Cari Nierenberg, Secret to Liz Taylor's Lush Lashes: A Genetic Mutation. NBC, Mar 28 2011. https://www.nbcnews.com/healthma ... -mutation-1C6437449
(ii) Lucas J. A. Wendel and Keith D Carter (University of Iowa), Distichiasis: 64-year-old white male with bilateral eye irritation. EyeRound.com, May 7, 2008 http://webeye.ophth.uiowa.edu/ey ... extra-eyelashes.htm
("A normal eyelid has a single row of eyelashes located along its anterior margin. The posterior portion of the lid contains a row of Meibomian glands, which secrete the oily component of the tear film. Distichiasis refers to the condition in which there is an extra row of lashes. These lashes are present on the posterior edge of the lid margin in place of the Meibomian glands. * * * Most cases of distichiasis are congenital. Congenital distichiasis is almost always associated with the Lymphedema-Distichiasis (LD) syndrome. * * * Diagnosis: Distichiasis")
The academic report carris photos. You might not have heard of Meibomian glands, but when the outlet of the gland is blocked, it is called 针眼 in Taiwan. When sebaceous gland of skin has the same problem, it is called acne.