Literature DB >> 6885070

Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.

E A Wulfsberg, R E Carrel, I J Klisak, T J O'Brien, J A Sykes, R S Sparkes.   

Abstract

The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for band q21. His phenotype is characterized by moderate mental retardation, a long narrow face, high and arched palate, cardiac murmur, undescended testes, and long hyperflexible extremities. The normal SOD-1 activity supports localization of this enzyme to 21q22.1.

Entities:  

Mesh：

Substances：

Year:  1983        PMID： 6885070     DOI： 10.1007/bf00279408

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

1.  [Partial trisomy 21 (21q21 - 21q22.2)].

Authors:  M Poissonnier; B Saint-Paul; B Dutrillaux; M Chassaigne; P Gruyer; G de Blignières-Strouk
Journal:  Ann Genet       Date:  1976-03

2.  Copper/zinc superoxide dismutase activity in trisomy 21 by translocation.

Authors:  P Garber; P M Sinet; H Jerome; J Lejeune
Journal:  Lancet       Date:  1979-10-27       Impact factor: 79.321

3.  Superoxide dismutase. An enzymic function for erythrocuprein (hemocuprein).

Authors:  J M McCord; I Fridovich
Journal:  J Biol Chem       Date:  1969-11-25       Impact factor: 5.157

4.  Dismutase activity in translocation trisomy.

Authors:  J Kedziora; G Bartosz; W Leyko; D Rozynkowa
Journal:  Lancet       Date:  1979-01       Impact factor: 79.321

5.  Confirmation of the assignment of the human SODS gene to chromosome 21q22.

Authors:  T Philip; J Fraisse; P M Sinet; B Lauras; J M Robert; F Freycon
Journal:  Cytogenet Cell Genet       Date:  1978

6.  Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess.

Authors:  M Habedank; A Rodewald
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

Authors:  N J Leschot; R M Slater; H Joenje; M J Becker-Bloemkolk; J J de Nef
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  The role of superoxide anion in the autoxidation of epinephrine and a simple assay for superoxide dismutase.

Authors:  H P Misra; I Fridovich
Journal:  J Biol Chem       Date:  1972-05-25       Impact factor: 5.157

9.  [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

Authors:  P M Sinet; J Couturier; B Dutrillaux; M Poissonnier; O Raoul; M O Rethore; D Allard; J Lejeune; H Jerome
Journal:  Exp Cell Res       Date:  1976-01       Impact factor: 3.905

10.  The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21.

Authors:  Y H Tan; J Tischfield; F H Ruddle
Journal:  J Exp Med       Date:  1973-02-01       Impact factor: 14.307
View more
  4 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 2.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

3.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

4.  Amyloid precursor protein metabolism in fibroblasts from individuals with one, two or three copies of the amyloid precursor protein (APP) gene.

Authors:  M Racchi; J A Johnston; F M Flood; R F Cowburn; S Govoni
Journal:  Biochem J       Date:  1999-03-15       Impact factor: 3.857
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.