Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/39069
Title: A new species of the caridean shrimp genus Ogyrides stebbing, 1914 (Decapoda: Ogyrididae) from the Eastern tropical Pacific
Author: Davalos, N.O.
García-Vargas, A.
Pforr, J.
Davalos, I.P.
Picos-Cardenas, V.J.
García-Cruz, D.
Kruse, R.
Figuera, L.E.
Nothen, M.M.
Betz, R.C.
Issue Date: 2005
Abstract: Background: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the comeodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin. Objectives: To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene. Patients/Methods: The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed. Results: By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation cosegregates perfectly in the family with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI. Conclusions: A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins. " 2005 British Association of Dermatologists.",,,,,,"10.1111/j.1365-2133.2005.06958.x",,,"http://hdl.handle.net/20.500.12104/39069","http://www.scopus.com/inward/record.url?eid=2-s2.0-28844454237&partnerID=40&md5=387cc76d5df9d80e8ecfa1fe3e946276
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=med5&AN=16307662",,,,,,"6",,"British Journal of Dermatology",,"1216
1219",,"153",,"Scopus
WOS
MEDLINE",,,,"Index Medicus;Adolescent;Alopecia/ge [Genetics];Base Sequence;Child;Chromosomes, Human, Pair 6/ge [Genetics];Codon, Nonsense;Female;Glycoproteins/ge [Genetics];Humans;Male;Mexico/eh [Ethnology];Middle Aged;Pedigree",,"Alopecia; Corneodesmosin; COSN gene; HSS; Hypotrichosis simplex; Nonsense mutation",,,,,,"A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp",,"Article" "40843","123456789/35008",,"Ayón-Parente, M., Departamento de Ecología, CUCBA-Universidad de Guadalajara, Carretera a Nogales, Las Agujas Nextipac, Zapopan, Jalisco, C.P. 45110, Mexico; Salgado-Barragán, J., Laboratorio de Invertebrados Bentúnicos, Instituto de Ciencias del Mar y Limnología, Universidad Nacional Autónoma, Mexico",,"Ayon-Parente, M.
Salgado-Barragan, J.",,"2013",,"The caridean shrimp Ogyrides wickstenae sp. nov. is described from Mazatlán, Pacific coast of Mexico. The new species is most closely related to O. tarazonai Wicksten & Méndez, 1988 and O. hayi Williams, 1981, sharing with them a single spine on the dorsal midline of the carapace. However, the new species can be distinguished from the two allied species by the presence of a single small spine on the second endopodal segment of the third maxilliped and the five-segmented carpus of the second pereopod. A key for the Eastern Pacific species of Ogyrides is provided. " 2013 Magnolia Press.
URI: http://hdl.handle.net/20.500.12104/39064
http://www.scopus.com/inward/record.url?eid=2-s2.0-84880323040&partnerID=40&md5=52a8bc85ae7e8abce89cd360a31f5358
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