Literature DB >> 3124612

Selection in favor of lysosomal storage disorders?

J Zlotogora1, M Zeigler, G Bach.   

Abstract

Four examples of Israeli communities or large families in which high consanguinity is common are presented, with two different lysosomal storage disorders within each community. In each of the four cases the stored substances share common chemical structure, despite the different lysosomal hydrolases involved in each disease. A similar phenomenon is known among the Ashkenazi Jews, in whom four of the most frequent hereditary disorders are lysosomal storage disorders, which are characterized by storage of sphingolipid derivatives. Similar findings are reported in the literature in other communities. We suggest that this phenomenon indicates a selection in favor of lysosomal storage disorders of similar nature in certain populations. The selection forces leading to this phenomenon have not been identified yet, and it has not yet been determined whether these forces are the same in the different communities presented here.

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Year:  1988        PMID: 3124612      PMCID: PMC1715247     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  7 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Founder effect in Tay-Sachs disease.

Authors:  A G Knudson
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

3.  Founder effect in Tay-Sachs disease unlikely.

Authors:  N C Myrianthopoulos; A F Naylor; S M Aronson
Journal:  Am J Hum Genet       Date:  1972-05       Impact factor: 11.025

4.  Controversy in human genetics: founder effect in Tay-Sachs disease.

Authors:  G A Chase; V A McKusick
Journal:  Am J Hum Genet       Date:  1972-05       Impact factor: 11.025

5.  Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

Authors:  M Renlund; P Aula; K O Raivio; S Autio; K Sainio; J Rapola; S L Koskela
Journal:  Neurology       Date:  1983-01       Impact factor: 9.910

6.  Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients.

Authors:  S Autio; J K Visakorpi; H Järvinen
Journal:  Ann Clin Res       Date:  1973-06

7.  Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population.

Authors:  E Andermann; C R Scriver; L S Wolfe; L Dansky; F Andermann
Journal:  Prog Clin Biol Res       Date:  1977
  7 in total
  8 in total

1.  Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.

Authors:  Neil Risch; Hua Tang; Howard Katzenstein; Josef Ekstein
Journal:  Am J Hum Genet       Date:  2003-02-24       Impact factor: 11.025

2.  The possibility of a selection process in the Ashkenazi Jewish population.

Authors:  Joel Zlotogora; Gideon Bach
Journal:  Am J Hum Genet       Date:  2003-08       Impact factor: 11.025

3.  A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.

Authors:  Montgomery Slatkin
Journal:  Am J Hum Genet       Date:  2004-06-18       Impact factor: 11.025

4.  Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Authors:  G A Diaz; B D Gelb; N Risch; T G Nygaard; A Frisch; I J Cohen; C S Miranda; O Amaral; I Maire; L Poenaru; C Caillaud; M Weizberg; P Mistry; R J Desnick
Journal:  Am J Hum Genet       Date:  2000-04-21       Impact factor: 11.025

5.  Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.

Authors:  Raelia Lew; Leslie Burnett; Anné Proos
Journal:  J Community Genet       Date:  2011-07-15

6.  LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

Authors:  Dimitar N Azmanov; Stanislava Dimitrova; Laura Florez; Sylvia Cherninkova; Dragomir Draganov; Bharti Morar; Rosmawati Saat; Manel Juan; Juan I Arostegui; Sriparna Ganguly; Himla Soodyall; Subhabrata Chakrabarti; Harish Padh; Miguel A López-Nevot; Violeta Chernodrinska; Botio Anguelov; Partha Majumder; Lyudmila Angelova; Radka Kaneva; David A Mackey; Ivailo Tournev; Luba Kalaydjieva
Journal:  Eur J Hum Genet       Date:  2010-11-17       Impact factor: 4.246

7.  Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle.

Authors:  J F Taylor; B Abbitt; J P Walter; S K Davis; J T Jaques; R F Ochoa
Journal:  Genetics       Date:  1993-11       Impact factor: 4.562

8.  Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

Authors:  U Heinisch; J Zlotogora; S Kafert; V Gieselmann
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

  8 in total

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