TY - JOUR
T1 - Copy number polymorphism in the α-globin gene cluster of European rabbit (Oryctolagus cuniculus)
AU - Campos, R.
AU - Storz, J. F.
AU - Ferrand, N.
N1 - Funding Information:
We thank J Melo-Ferreira, M Carneiro, M Schilthuizen and two anonymous reviewers for helpful comments on the manuscript. Part of the work was done in the laboratories of the Centro de Malária e Doenc¸as Tropicais (CMDT-LA) and for that we are grateful to Prof Henrique Silveira. We also wish to thank Bruno Monteiro for help in the lab. This work was supported by Fundac¸ão para a Ciência e a Tecnologia (PhD grant SFRH/BD/1409/2000 to RC and project grant POCTI/BSE/40280/2001). JFS acknowledges grant support from the National Science Foundation (DEB-0614342 and IOS0949931) and the National Institutes of Health/National Heart, Lung and Blood Institute (R01 HL087216 and HL087216-S1).
PY - 2012/5
Y1 - 2012/5
N2 - Comparative genomic studies have revealed that mammals typically possess two or more tandemly duplicated copies of the α-globin (HBA) gene. The domestic rabbit represents an exception to this general rule, as this species was found to possess a single HBA gene. Previous electrophoretic surveys of HBA polymorphism in natural populations of the European rabbit (Oryctolagus cuniculus) revealed extensive geographic variation in the frequencies of three main electromorphs. The variation in frequency of two electromorphs is mainly partitioned between two distinct subspecies of European rabbit, and a third is restricted to the hybrid zone between the two rabbit subspecies in Iberia. Here we report the results of a survey of nucleotide polymorphism, which revealed HBA copy number polymorphism in Iberian populations of the European rabbit. By characterizing patterns of HBA polymorphism in populations from the native range of the European rabbit, we were able to identify the specific amino-acid substitutions that distinguish the previously characterized electromorphs. Within the hybrid zone, we observed the existence of a second HBA gene duplicate, named HBA2, that mostly represents a novel sequence haplotype, which occurs in higher frequency within the hybrid zone, and thus appears to have arisen in hybrids of the two distinct subspecies. Although this novel gene is also present in other wild Iberian populations, it is almost absent from French populations, which suggest a recent ancestry, associated with the establishment of the post-Pleistocene contact zone between the two European rabbit subspecies.
AB - Comparative genomic studies have revealed that mammals typically possess two or more tandemly duplicated copies of the α-globin (HBA) gene. The domestic rabbit represents an exception to this general rule, as this species was found to possess a single HBA gene. Previous electrophoretic surveys of HBA polymorphism in natural populations of the European rabbit (Oryctolagus cuniculus) revealed extensive geographic variation in the frequencies of three main electromorphs. The variation in frequency of two electromorphs is mainly partitioned between two distinct subspecies of European rabbit, and a third is restricted to the hybrid zone between the two rabbit subspecies in Iberia. Here we report the results of a survey of nucleotide polymorphism, which revealed HBA copy number polymorphism in Iberian populations of the European rabbit. By characterizing patterns of HBA polymorphism in populations from the native range of the European rabbit, we were able to identify the specific amino-acid substitutions that distinguish the previously characterized electromorphs. Within the hybrid zone, we observed the existence of a second HBA gene duplicate, named HBA2, that mostly represents a novel sequence haplotype, which occurs in higher frequency within the hybrid zone, and thus appears to have arisen in hybrids of the two distinct subspecies. Although this novel gene is also present in other wild Iberian populations, it is almost absent from French populations, which suggest a recent ancestry, associated with the establishment of the post-Pleistocene contact zone between the two European rabbit subspecies.
KW - European rabbit
KW - copy number polymorphism
KW - gene duplication
KW - haemoglobin
KW - hybridization
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U2 - 10.1038/hdy.2011.118
DO - 10.1038/hdy.2011.118
M3 - Article
C2 - 22146981
AN - SCOPUS:84860015344
SN - 0018-067X
VL - 108
SP - 531
EP - 536
JO - Heredity
JF - Heredity
IS - 5
ER -