Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/38917
Title: A 45,X sterile male with Yp disguised as 21p
Author: Yasuda, T.
Ueki, M.
Takeshita, H.
Fujihara, J.
Kimura-Kataoka, K.
Iida, R.
Tsubota, E.
Soejima, M.
Koda, Y.
Kato, H.
Panduro-Cerda, Arturo
Issue Date: 2010
Abstract: A reduction of deoxyribonuclease I (DNase I) activity levels in the serum of patients with autoimmune diseases has been reported. The objectives of this study were to clarify genetic and biochemical aspects of 12 non-synonymous SNPs in the human gene (DNASE1), potentially giving rise to an alteration in the in vivo DNase I activity levels. Genotyping of all the non-synonymous SNPs was performed in healthy subjects of three ethnic groups including 15 populations using newly developed methods. Among them, only four SNPs, R-21S, Y95S, G105R, and Q222R were polymorphic in all or some populations; Asian group showed a relatively low genetic diversity of these SNPs. Furthermore, the distribution pattern of the common SNP Q222R was classified into three ethnic groups. The activity levels of the amino acid-substituted DNase I forms derived from SNPs R-21S, G105R, P132A, and P197S were significantly high compared with that of the wild-type; the polymorphic SNPs R-21S and G105R gave rise to a high activity-harboring DNase I isoform. On the other hand, activity levels from Q35H, R85G, V89M, C209Y, Q222R, and A224P were significantly low, but these SNPs, except Q222R, were not distributed in any of the populations. However, since these SNPs may produce potentially low levels of in vivo DNase I activity, a minor allele in each SNP will be served as a genetic risk factor for autoimmune diseases. These findings on non-synonymous SNPs in DNASE1 may provide a biochemical-genetic basis for the clarification of a possible relationship between DNase I and the diseases. " 2010 Elsevier Ltd.",,,,,,"10.1016/j.biocel.2010.04.012",,,"http://hdl.handle.net/20.500.12104/38917","http://www.scopus.com/inward/record.url?eid=2-s2.0-77953539844&partnerID=40&md5=e551de7bca4726ea424d05b55a233a4a",,,,,,"7",,"International Journal of Biochemistry and Cell Biology",,"1216
1225",,"42",,"Scopus
WOS",,,,,,"DNase I; Ethnic; Functional; Human; Non-synonymous; SNP/Biochemistry & Molecular Biology; Cell Biology",,,,,,"A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity",,"Article" "40679","123456789/35008",,"Rivera, H., Doctorado en Genética Humana, Instituto Mexicano del Seguro Social, Universidad de Guadalajara, Guadalajara, Mexico",,"Rivera, H.",,"2010",,"[No abstract available]",,,,,,"10.1002/ajmg.a.33149",,,"http://hdl.handle.net/20.500.12104/38900","http://www.scopus.com/inward/record.url?eid=2-s2.0-77950374138&partnerID=40&md5=19567ac115bf59c3412085329d87cc15",,,,,,"4",,"American Journal of Medical Genetics, Part A",,"1059",,"152",,"Scopus
WOS",,,,,,"Genetics & Heredity",,,,,,"3p deletion and (skewed) literature review",,"Letter" "40684","123456789/35008",,"Espinosa Ramírez, Rafael S. Universidad de Guadalajara",,"Espinosa Ramírez, Rafael S.",,"2004",,,,,,,,,,"1870-6622","http://hdl.handle.net/20.500.12104/38905",,,"Español",,,,"1",,"EconoQuantum",,"17-39",,"1",,"CLASE",,,,,,,,"Política económica",,,,"Corrupción, inversión extranjera directa y reformas institucionales",,"journalArticle" "40689","123456789/35008",,"Dávalos, I.P., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico; Rivera, H., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, CUCS, Universidad de Guadalajara, Guadalajara, Mexico, División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jal., Mexico; Vásquez, A.I., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico; Gutiérrez-Angulo, M., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, CUCS, Universidad de Guadalajara, Guadalajara, Mexico; Hernández-Vázquez, M.C., Hospital General de Occidente, Secretaría de Salud, Zapopan, Mexico; Cortina-Luna, F.A., Hospital General de Occidente, Secretaría de Salud, Zapopan, Mexico; Wong-Ley, L.E., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, CUCS, Universidad de Guadalajara, Guadalajara, Mexico; Domínguez-Quezada, M.G., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico",,"Davalos, I.P.
Rivera, H.
Vasquez, A.I.
Gutierrez-Angulo, M.
Hernandez-Vazquez, M.C.
Cortina-Luna, F.A.
Wong-Ley, L.E.
Dominguez-Quezada, M.G.",,"2002",,"An azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole Y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y- and 21-sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+, D13Z1/D21Z1+). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype-phenotype correlations. " 2002 Wiley-Liss, Inc.
URI: http://hdl.handle.net/20.500.12104/38910
http://www.scopus.com/inward/record.url?eid=2-s2.0-0037158483&partnerID=40&md5=88b868dda4914eda2d49de8516ea0a26
Appears in Collections:Producción científica UdeG

Files in This Item:
There are no files associated with this item.


Items in RIUdeG are protected by copyright, with all rights reserved, unless otherwise indicated.