Acid Phosphatase, Adenosine Deaminase and Esterase D Polymorphisms in the Spanish Basque Population

Aguirre, A.; Vicario, A.; Mazon, L. I.; Pancorbo, Marian M. de; Estomba, A.; Lostao, C. M.

doi:10.1159/000153985

Cited by 12 publications

(11 citation statements)

References 18 publications

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“…Five populations are suspected outliers [as defined by Tukey (1977)]. Three of these populations have ACP1*C frequencies less than 0.010: the Norwegian Saami (Lie and Teisberg 1973), Spanish Basques from the Biscay region (Aguirre et al 1991), and a population from southwest Germany (Goedde et al 1966). The remaining two suspected outliers have ACP1*C frequencies greater than 0.095: the Skolts from northern Finland (Mourant et al 1976) and a sample of Poles from Krakow, Wroclaw, and Rzeszow (Wyslouchowa 1970).…”

Section: Acp1*c Allele Frequenciesmentioning

confidence: 99%

European ACP1*C Allele Has Recessive Deleterious Effects on Early Life Viability

Wilder¹,

Hammer

2004

Human Biology

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The acid phosphatase locus (ACP1) is a classical polymorphism that has been surveyed in hundreds of human populations worldwide. Among individuals of European ancestry, the ACP1*C allele occurs with an average frequency of approximately 0.05, whereas it is nearly absent in all other human populations. It has been hypothesized that this allele is maintained by over dominant selection among European populations. Here, we analyze ACP1 protein polymorphism data from more than 50,000 individuals previously surveyed in 67 populations across Europe as well as inheritance data from more than 6,000 European parent-offspring pairs to assess the signature of natural selection currently acting on this allele. Although we see a significant excess of ACP1*C heterozygotes relative to Hardy-Weinberg expectations, we find no evidence that natural selection favors ACP1*C heterozygotes. Instead, ACP1*C appears to have a strongly deleterious and recessive fitness effect. We observed only 48.9% of expected homozygous offspring from heterozygous parents and significantly fewer homozygotes than expected within populations. Because parent-offspring pairs indicate a significant deficiency of ACP1*C homozygotes, we infer that viability selection is acting on ACP1*C homozygotes very early in life, perhaps before birth. We estimate that approximately 1.2% of all couples of European ancestry are composed of individuals who both carry the APC1*C allele. As such, selection against ACP1*C homozygotes may represent a nonnegligible contribution to the overall number of spontaneous abortions among women of European ancestry and may cause substantial fertility reductions among some combinations of parental genotypes. Keywords ACP1; ACID PHOSPHATASE; OVERDOMINANCE; NATURAL SELECTION; SPONTANEOUS ABORTION; EUROPEAN POPULATIONSThe acid phosphatase locus (ACP1) is a polymorphic enzyme system that has been surveyed in hundreds of thousands of individuals worldwide (Mourant et al. 1976;Roychoudhury and Nei 1988). ACP1 has four major codominant alleles that reach polymorphic frequencies, two with global distributions (ACP1*A and ACP1*B) and two with regional geographic distributions (ACP1*C and ACP1*R, which are restricted to Europe and sub-Saharan Africa, respectively). In addition, a number of minor alleles reach polymorphic frequencies in individual populations, such as ACP1*GUA among the Guaymi of Costa Rica and ACP1*TIC among the Ticuna of Brazil (Neel et al. 1980;Barrantes et al. 1982).ACP1 encodes two separate isozyme products through alternative splicing of the primary RNA transcript (Dissing and Sensabaugh 1987;Dissing et al. 1991;Lazaruk et al. 1993). Allele variants of ACP1 differ in their production of these isozymes with respect to both the total quantity and the ratio of isozymes produced [reviewed by Greene et al. (2000)]. Thus ACP1 genotypes appear to have distinct phenotypes with regard to enzyme production, NIH Public Access NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript making them potential targets ...

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Section: Acp1*c Allele Frequenciesmentioning

confidence: 99%

European ACP1*C Allele Has Recessive Deleterious Effects on Early Life Viability

Wilder¹,

Hammer

2004

Human Biology

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“…In the biological anthropology literature, the Basque population has been studied using craniometrics (Broca 1864;Calafell and Bertranpetit 1994), linguistics (Trask 1997), blood group antigens (Boyd and Boyd 1937;Chalmers et al 1948;Chalmers et al 1949;Etcheverry 1945;Levine 1977;Levine et al 1974;MacClancy 1993;Mourant 1948), erythrocytic enzymes (Aguirre et al 1989;Aguirre et al 1991;Manzano et al 1996), plasma proteins (Manzano et al 1993), HLA antigens and haplotypes (Calderon et al 1998;Dugoujon et al 1989;Esteban et al 1998;Hazout et al 1991), autosomal STRs (Alonso et al 1995;Arrieta et al 1997;Garcia et al 1998;Garcia et al 2001;Iriondo et al 1997;Iriondo et al 1999;Perez-Lezaun et al 2000;Perez-Miranda et al 2005a;Perez-Miranda et al 2005b;Zlojutro et al 2006), mitochondrial haplogroups and sequences (Alfonso-Sanchez et al 2008;Alzualde et al 2006;Alzualde et al 2005;Bertranpetit et al 1995;Corte-Real et al 1996;Garcia et al 2011;Gonzalez et al 2003;Gonzalez et al 2006;Izagirre and de la Rua 1999), and Y-chromosome markers …”

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confidence: 99%

Paternal Genetic History of the Basque Population of Spain

et al. 2011

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“…The Basque series all present values for this allele of more than 0.900. They are at the top of the range of variation for allele ESD*1 not only in the Iberian Peninsula but in the population of Europe in general [1].…”

Section: Resultsmentioning

confidence: 96%

“…An analysis of the data published to date for enzyme ESD in the Spanish and Basque populations [1, shows that the range of variation for allele ESD*1 oscillates from 0.799 in one sample of the Spanish population [20] and 0.953 in Basques from Guernica (Viz caya) [8]. The Basque series all present values for this allele of more than 0.900.…”

Section: Resultsmentioning

confidence: 96%

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New Contribution to the Genetics of the Basques: Heterogeneity in the Esterase D Subtype Distribution

et al. 1993

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A random sample of 1,491 indidivuals from three Basque provinces was studied for the red-cell esterase D (ESD) polymorphism by means of isoelectric focusing. The following allele frequencies were observed: Vizcaya, ESD*1 = 0.933, ESD*2 = 0.058, ESD*5 = 0.009; Guipuzcoa, ESD*1 = 0.938, ESD*2 = 0.053, ESD*5 = 0.009; and Alava, ESD*1 = 0.894, ESD*2 = 0.088, ESD*5 = 0.018. The Basques from Vizcaya and Guipuzcoa display the lowest values for allele ESD*5 of any European population studied to date. The value obtained for this allele in the Basque population of Alava is significantly higher than those found in the other two Basque samples. This, together with the fact that Basques from Alava display the lowest ESD*1 frequency of any Basque series, suggests that there are genetic differences between Basque provinces.

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Acid Phosphatase, Adenosine Deaminase and Esterase D Polymorphisms in the Spanish Basque Population

Cited by 12 publications

References 18 publications

European ACP1*C Allele Has Recessive Deleterious Effects on Early Life Viability

European ACP1*C Allele Has Recessive Deleterious Effects on Early Life Viability

Paternal Genetic History of the Basque Population of Spain

New Contribution to the Genetics of the Basques: Heterogeneity in the Esterase D Subtype Distribution

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