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In mainland Europe, mouflon were first introduced in the 18th and 19th centuries, mainly in Germany, Austria, the Czech Republic, Slovakia, and Hungary. In the early 20th century, mouflon were introduced in Croatia, while all introductions in Slovenia occurred in the 1950s and 1960s. Since the introduction, populations in both countries have remained largely stable, with occasional declines and increases in some areas. Due to several up-following introduction events, also using individuals with unknown origin, the genetic pool of the species might be very admixed; however, no genetic study has been made to date. Therefore, our aim was to: i) determine the origin of introduced mouflon in Slovenia and Croatia, ii) compare the neutral and adaptive genetic make-up of introduced populations. In genetic analyses, which were performed at neutral loci (partial fragment of mitochondrial control region, mtDNA CR) and adaptive major histocompatibility complex (MHC; DRB exon 2) using the next generation sequencing approach, we also included individuals from Germany, France (Corsica), Italy (Sardinia), and the Czech Republic. The haplotype network based on mtDNA CR showed that most analysed mouflon from Slovenia shared the same haplotypes or were closely related to mouflon from Germany and Sardinia, and a few shared the same haplotypes as most mouflon from Croatia. Croatian mouflon from all studied populations shared the same or close haplotypes with individuals from the first Croatian population established in Brijuni Island National Park (northern Adriatic Sea) in the early 20th century. Similar results for populations in both countries were revealed by MHC genes. According to the genetic data, the population origins are generally in agreement with the written historical records, although there are indications of the introduction or release of extra individuals into certain colonies where historical data is lacking. Furthermore, our findings validate that both mitochondrial and MHC genetic diversity are useful tools for investigating the paths of translocation.

Population genetic studies provide accurate information on population structure, connectivity, and hybridization. These are key elements to identify units for conservation and define wildlife management strategies aimed to maintain and restore biodiversity. The Mediterranean island of Sardinia hosts one of the last autochthonous mouflon populations, descending from the wild Neolithic ancestor. The first mouflon arrived in Sardinia ~ 7000 years ago and thrived across the island until the twentieth century, when anthropogenic factors led to population fragmentation. We analysed the three main allopatric Sardinian mouflon sub-populations, namely: the native sub-populations of Montes Forest and Mount Tonneri, and the reintroduced sub-population of Mount Lerno. We investigated the spatial genetic structure of the Sardinian mouflon based on the parallel analysis of 14 highly polymorphic microsatellite loci and mitochondrial D-loop sequences. The Montes Forest sub-population was found to harbour the ancestral haplotype in the phylogeny of European mouflon. We detected high levels of relatedness in all the sub-populations and a mitochondrial signature of hybridization between the Mount Lerno sub-population and domestic sheep. Our findings provide useful insights to protect such an invaluable genetic heritage from the risk of genetic depletion by promoting controlled inter-population exchange and drawing informed repopulation plans sourcing from genetically pure mouflon stocks.

Human activities are having increasingly devastating effects on the health of marine and terrestrial ecosystems. Studying the adaptive responses of animal species to changes in their habitat can be useful in mitigating this impact. Vultures represent one of the most virtuous examples of adaptation to human-induced environmental changes. Once dependent on wild ungulate populations, these birds have adapted to the epochal change resulting from the birth of agriculture and livestock domestication, maintaining their essential role as ecological scavengers. In this review, we retrace the main splitting events characterising the vultures’ evolution, with particular emphasis on the Eurasian griffon Gyps fulvus. We summarise the main ecological and behavioural traits of this species, highlighting its vulnerability to elements introduced into the habitat by humans. We collected the genetic information available to date, underlining their importance for improving the management of this species, as an essential tool to support restocking practices and to protect the genetic integrity of G. fulvus. Finally, we examine the difficulties in implementing a coordination system that allows genetic information to be effectively transferred into management programs. Until a linking network is established between scientific research and management practices, the risk of losing important wildlife resources remains high.

In Italy the Eurasian griffon Gyps fulvus became extinct between the 19th and 20th centuries, with the exception of Sardinia where is now considered “critically endangered”. Here we provide the first whole mitogenome sequence of Gyps fulvus , which was 17,961 bp long. Evolutionary analysis pointed out a divergence between griffon and black vulture ( Aegypius monachus ) which occurred about 25.8 MYA, while the rise of the Gyps ancestor was dated back at around 5.4 MYA. In addition, the early radiation within the G . fulvus species started between 310 and 120 MYA. To prevent extinction of the Sardinian population, two restocking events were carried out, unfortunately without contributions of genetic evidences. To estimate the impact derived by the restocking activities, mitochondrial D-loop sequences from 22 museum individuals, which died before reintroduction events, were compared with 44 sequences from the extant population. Within the extant samples we detected three haplotypes (Hpt A, B and C). Hpt C showed the lowest frequency and it was not present among the museum samples, while Hpt A and B were found to be the most represented in extant and museum samples, respectively. In order to prevent the loss of genetic variability within the Sardinian population we recommend to refer to the new genetic information provided in the present study before the implementation of recovery programs in the future.

The islands of Sardinia, Crete, and Cyprus are hosting the last native insular griffon populations in the Mediterranean basin. Their states have been evaluated from “vulnerable” to “critically endangered”. The sequence analysis of molecular markers, particularly the mtDNA D-loop region, provides useful information in studying the evolution of closely related taxa and the conservation of endangered species. Therefore, a study of D-loop region sequence was carried out to estimate the genetic diversity and phylogenetic relationship within and among these three populations. Among 84 griffon specimens (44 Sardinian, 33 Cretan, and 7 Cypriot), we detected four haplotypes including a novel haplotype (HPT-D) that was exclusively found in the Cretan population with a frequency of 6.1%. When considered as a unique population, haplotype diversity (Hd) and nucleotide diversity (π) were high at 0.474 and 0.00176, respectively. A similar level of Hd and π was found in Sardinian and Cretan populations, both showing three haplotypes. The different haplotype frequencies and exclusivity detected were in accordance with the limited matrilineal gene flow (FST = 0.07097), probably related to the species reluctance to fly over sea masses. The genetic variability we observe today would therefore be the result of an evolutionary process strongly influenced by isolation leading to the appearance of island variants which deserve to be protected. Furthermore, since nesting sites and food availability are essential elements for colony settlement, we may infer that the island's colonization began when the first domestic animals were transferred by humans during the Neolithic. In conclusion, our research presents a first contribution to the genetic characterization of the griffon vulture populations in the Mediterranean islands of Sardinia, Crete and Cyprus and lays the foundation for conservation and restocking programs.

Background European mouflon (Ovis orientalis musimon) has been reintroduced in mainland Europe since the 18th-century sourcing from the Sardinian and Corsican autochthonous mouflon populations. The European mouflon is currently considered the feral descendent of the Asian mouflon (O. orientalis), and the result of first wave of sheep domestication occurred 11,000 years ago in the Fertile Crescent, and brought to Corsica and Sardinia ca. 6,000 years ago, where they still live as autochthonous populations. However, this phylogeny is based on mitogenome sequences of European mouflon individuals exclusively. Methods We sequenced the first complete mtDNA of the long-time isolated Sardinian mouflon and compared it with several ovine homologous sequences, including mouflon from mainland Europe and samples representative of the five known mitochondrial domestic sheep haplogroups. We applied Bayesian inference, Maximum Likelihood and Integer Neighbour-Joining network methods and provided a robust, fully-resolved phylogeny with strong statistical support for all nodes. Results We identified an early split (110,000 years ago) of the Sardinian mouflon haplotype from both sheep and mainland European mouflon belonging to haplogroup B, the latter two sharing a more recent common ancestor (80,000 years ago). Further, the Sardinian mouflon sequence we generated had the largest genetic distance from domestic sheep haplogroups (0.0136 ± 0.004) among mouflon species. Our results suggest the Sardinian mouflon haplotype as the most ancestral in the HPG-B lineage, hence partially redrawing the known phylogeny of the genus Ovis.

We report a novelβ+-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of theβ-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2(3.96%). The expression of the mutatedβallele was inferred by luciferase reporter assay in K562 cells. Theβ-72 determinant is the eighthβ-thalassemic mutation identified in Vietnam and it was not previously reported in any population. The absence of homozygous or compound heterozygous states did not allow us to precisely predict either its clinical impact or its relevance in management programs. Our results further underline the importance of identifying and characterizing new or rareβ+-thalassemic alleles in carrier screening and prenatal diagnosis.

During a screening for hemoglobinopathies, we found a carrier of the Sardinian δβ-thalassemia condition. The proband's hematology and hemoglobin (Hb) profile agreed with those of the other carriers previously identified during our diagnostic program except for the fetal Hb (HbF) composition, which consisted of both α2Aγ2 and α2Gγ2 instead of nearly 100% α2Aγ2. In order to explain the unusual γ-chain ratio, sequencing of the Gγ promoter was carried out and revealed two nucleotide substitutions in cis: C→T at position -474 and A→G at position -309 from the Cap site. The latter had previously been observed in subjects with raised HbF levels, although it has not yet been evaluated at functional level. We used the luciferase assay to determine whether the two mutations modify the transcriptional activity of the Gγ promoter. Results indicated that the observed in vivo Gγ-globin production cannot be translated into increased in vitro promoter function, suggesting that the assessed mutations cannot be considered as functional single nucleotide polymorphisms per se; instead, a more complex regulatory mechanism might be involved.

Mouflon (Ovis aries musimon) became extinct from mainland Europe after the Neolithic, but remnant populations from the Mediterranean islands of Corsica and Sardinia have been used for reintroductions across Europe since the 19th-century. Mouflon x sheep hybrids are larger-bodied than mouflon, potentially showing increased male reproductive success, but little is known about genomic levels of admixture, or about the adaptive significance of introgression between resident mouflon and local sheep breeds. Here we analysed Ovine medium-density SNP array genotypes of 92 mouflon from six geographic regions, along with data from 330 individuals of 16 domestic sheep breeds. We found lower levels of genetic diversity in mouflon than in domestic sheep, consistent with past bottlenecks in mouflon. Introgression signals were bidirectional and affected most mouflon and sheep populations, being strongest in one Sardinian mouflon population. Developing and using a novel approach to identify chromosomal regions with consistent introgression signals, we infer adaptive introgression from mouflon to domestic sheep related to immunity mechanisms, but not in the opposite direction. Further, we infer that Soay and Sarda sheep carry introgressed mouflon alleles involved in bitter taste perception and/or innate immunity. Our results illustrate the potential for adaptive introgression even among recently diverged populations.

The molecular basis of β-thalassemia (β-thal) mutations in North and in South Vietnam have been described during the past 15 years, whereas limited data were available concerning the central area of the country. In this study, we describe the molecular characterization and frequency of β-globin gene mutations in the Thua Thien Hue Province of Central Vietnam as the result of a first survey conducted in 22 transfusion-dependent patients, and four unrelated heterozygotes. Nine different known mutations were identified (seven of the β

Here we describe Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C], a new hemoglobin (Hb) variant observed in a healthy newborn. The proband's hemolysate was found to be mildly unstable by the isopropanol test. The occurrence of the variant was assessed by both chromatographic and electrophoretic methods. DNA sequencing analysis of the (G)γ gene showed a T to C transition at codon 41 (TTC > CTC) corresponding to the Phe → Leu substitution. Normal functional properties have been hypothesized.

We report a new hemoglobin (Hb) variant on the HBA2 gene, Hb Zara [α91(FG3)Leu→Ile (α2); HBA2: c.274C > A], which was found in a Caucasian man from Croatia. It was observed by routine cation exchange chromatography as an abnormal 21.8% fraction overlapping Hb A2, and associated with normal hematology. It was slightly unstable by the standard isopropanol precipitation test. DNA analysis revealed the CTT > ATT mutation at codon 91 on an α2 gene of a normal α-globin gene arrangement. This new variant represents the sixth described mutation at codon α91 and fourth on the α2 locus. As a result of the slight instability due to the significant role of the α91 residue in the α1β2 contact, the level of the Hb Zara variant was lower than levels observed for several stable variants codified by the α2 locus.

A new variant of the fetal hemoglobin (Hb) was observed in a newborn baby subjected to phototherapy due to jaundice, by means of electrophoretic and chromatographic techniques. The variant Hb resulted unstable by the isopropanol stability test. After HBG2 gene sequencing, the G to A transversion at codon 64, position eight of the E helix, was found, which corresponds to the Asp for Gly amino acid substitution. The new variant was called Hb F-Turritana [(G) γ64(E8)Gly→Asp, HBG2:c.194G>A]. Incoming aspartic acid residue, bulky and negatively charged, may be responsible for alteration of the heme pocket steric configuration and for instability. The new abnormal HBG2 gene was found to be associated in cis with the mutated HBG1 gene, which characterizes the Hb F-Sardinia [(A) γ (E19)Ile→Thr, HBG1:c.227T>C] variant.

We report a novel β+-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the β-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated β allele was inferred by luciferase reporter assay in K562 cells. The β -72 determinant is the eighth β-thalassemic mutation identified in Vietnam and it was not previously reported in any population. The absence of homozygous or compound heterozygous states did not allow us to precisely predict either its clinical impact or its relevance in management programs. Our results further underline the importance of identifying and characterizing new or rare β+-thalassemic alleles in carrier screening and prenatal diagnosis.

During a screening for hemoglobinopathies, we found a carrier of the Sardinian δβ-thalassemia condition. The proband's hematology and hemoglobin (Hb) profile agreed with those of the other carriers previously identified during our diagnostic program except for the fetal Hb (HbF) composition, which consisted of both α2Aγ2 and α2Gγ2 instead of nearly 100% α2Aγ2. In order to explain the unusual γ-chain ratio, sequencing of the Gγ promoter was carried out and revealed two nucleotide substitutions in cis: C→T at position -474 and A→G at position -309 from the Cap site. The latter had previously been observed in subjects with raised HbF levels, although it has not yet been evaluated at functional level. We used the luciferase assay to determine whether the two mutations modify the transcriptional activity of the Gγ promoter. Results indicated that the observed in vivo Gγ-globin production cannot be translated into increased in vitro promoter function, suggesting that the assessed mutations cannot be considered as functional single nucleotide polymorphisms per se; instead, a more complex regulatory mechanism might be involved.

Two healthy newborns, heterozygous for two different γ-globin chain mutations, were observed during an electrophoretic screening for hemoglobinopathies in Sassari, North Sardinia (Italy). The variants were characterized by reversed phase high performance liquid chromatography (HPLC) and sequencing of amplified γ-globin genes. One of the two abnormalities was a novel Aγchain variant and the tetramer was named Hb F-Osilo [Aγ119(GH2)Gly→Ser]. The other was a Gγ chain variant, Hb F-Paulinia [Gγ80(EF4)Asp→Tyr], already described in a Brazilian baby of African ancestry. No functional studies could be performed.

In order to investigate the polymorphism of ?-globin chain of hemoglobin amongst caprines, the linked (I)? and (II)? globin genes of Barbary sheep (Ammotragus lervia), goat (Capra hircus), European mouflon (Ovis aries musimon), and Cyprus mouflon (Ovis aries ophion) were completely sequenced, including the 5? and 3? untranslated regions. European and Cyprus mouflons, which do not show polymorphic ? globin chains, had almost identical ? globin genes, whereas Barbary sheep exhibit two different chains encoded by two nonallelic genes. Four different ? genes were observed and sequenced in goat, validating previous observations of the existence of allelic and nonallelic polymorphism. As in other vertebrates, interchromosomal gene conversion appears to be responsible for such polymorphism. Evaluation of nucleotide sequences at the level of molecular evolution of the (I)?-globin gene family in the caprine taxa suggests a closer relationship between the genus Ammotragus and Capra. Molecular clock estimates suggest sheep-mouflon, goat-aoudad, and ancestor-caprine divergences of 2.8, 5.7, and 7.1 MYBP, respectively.

Sequencing of alpha-globin genes of 18 Sardinian heterozygotes for the Hb G-Philadelphia [alpha 68(E17)Asn-->Lys] variant, with four active alpha genes and circulating level of the variant of about 27%, showed the AAC-->AAG change at codon 68 of the alpha 2-globin gene (alpha(G)alpha/alpha alpha). Two heterozygotes with level of about 37% were the carriers of the same mutation on the same alpha 2 gene, and of the alpha 2 alpha 1 hybrid gene, because of the 3.7-kb deletion, in trans (alpha(G)alpha/-alpha(3.7)). In Black people, the same C-->G mutation occurs on the hybrid gene (-alpha(G)3.7), whereas in Caucasians the Lys for Asn change is because of the C-->A transversion occurring on the alpha 2 gene of a normal alpha alpha arrangement. The identification of the C-->G mutation on the normal alpha alpha chromosome points to an undescribed genotype for this rather common variant, which is probably because of the high rate of recombination between the duplicated alpha-globin genes.

Four novel alleles of the adult β-globin gene of Capra hircus were observed in an extended study on hemoglobin polymorphism in goat breeds living in the island of Sardinia. Nucleotide sequencing showed that one of these alleles is due to a 2 bp substitution at codon 125 ( $$\underline {CT} \to \underline {GA} G,$$ G, "Leu→Glu). Two substitutions, the silent CT $$\underline T \to CT\underline C $$ for Leu at codon 78 and the conservative A $$\underline A G \to A\underline G $$ G (Lys →Arg) at codon 104, are shared by the other three alleles, two of them having additional mutations, which suggests a common origin. The allele we provisionally called the β Y shares four out of five amino acid substitutions, together with the same polymorphisms in the IVSII, we observed previously in the rather common β E gene. This evidence allowed the origin of the β E gene to be better characterized. The data increase to seven the number of alleles at the goat β A -globin locus characterized thus far at the molecular level. A simplified nomenclature for the increasing number of goat β-globin alleles is presented.

Owing to the presence of several variants at the adult β -locus and at both α-globinloci, the Hb polymorphism in goat is remarkably complex. We recently confirmed this high polymorphism in a survey on some 400 goats from Sardinia, Egypt and Cyprus. Eight alleles at the β-adultlocus and two allelic genes at both α-globinloci have been detected by electrophoretic and Chromatographic techniques. Five of the β genes identified have been completely sequenced. Four of them produce globin chains already described in previous studies at the protein level, whereas the globin chain encoded by the remaining one was undescribed. Results at the coding and non-coding regions level provide a possible basis for further interpretations on the origin of these alleles.

In order to obtain molecular and biochemical data, which might help to elucidate aspects of evolution of Caprinae globin genes, we characterized the Hb phenotype ofAmmotragus lervia (Barbary sheep) and compared it withO. aries (of the A and B-haplotypes),O. g. musimon (of the B and M-haplotypes),O. g. ophion (Cyprus mouflon), andCapra hircus. DNA sequencing analysis on PCR amplified segments was used to define the adult β-globin gene of Cyprus mouflon and Hb B type sheep. The structure of the adult β-globin gene of Barbary sheep was partially determined for the first time indicating closer relationships with goat than with sheep.

The occurrence of several abnormal hemoglobins (Hbs) in the population of the island of Sardinia has been documented [[1]]. Because of continuing screening programs for hemoglobinopathies among new...

Background HbF-Monserrato-Sassari is a newly discovered abnormal fetal hemoglobin observed in an apparently normal newborn baby during a hemoglobinopathies survey at birth in North Sardinian population. Methods Electrophoretic analysis of the cord blood lysate evidenced for an abnormal tetramer due to a mutated fetal globin chain. Electrospray ionisation-mass spectrometry and gene sequencing were used to identify the mutation. Oxygen binding ability of the variant Hb was determined. Results Sequencing of the γ globin genes revealed the TGT → CGT transition at codon 93 in one of the two Gγ genes, which leads to the Arg for Cys amino acid replacement at position 9 of the F α-helix. The amino acid substitution was confirmed by mass spectrometric analysis of the globin chains. Since modifications or substitutions at position β93 are known to affect the arrangement of a salt bridge at the α1β2 sliding contacts that are crucial for subunit cooperativity, the functional properties of the variant were studied to evaluate the effect of the replacement at the same position in the γ globin chain. With respect to normal HbF, the variant showed a significant increase in oxygen affinity and a slight decrease of both Bohr effect and cooperativity. General significance Result indicates a key role of the Cys γ93 residue for subunit cooperativity in the T → R transition of the HbF tetramer. Substitutions at the F9 position of the Gγ globin may result in stabilization of the high affinity R-state of the Hb tetramer. Because of the loss of Cys γ93 residue, this variant is considered to be potentially compromised in nitric oxide transport.

Two healthy newborns, heterozygous for two different gamma-globin chain mutations, were observed during an electrophoretic screening for hemoglobinopathies in Sassari, North Sardinia (Italy). The variants were characterized by reversed phase high performance liquid chromatography (HPLC) and sequencing of amplified gamma-globin genes. One of the two abnormalities was a novel (A)gammachain variant and the tetramer was named Hb F-Osilo [(A)gamma119(GH2)Gly--Ser]. The other was a (G)gamma chain variant, Hb F-Paulinia [(G)gamma80(EF4)Asp--Tyr], already described in a Brazilian baby of African ancestry. No functional studies could be performed.

Hb F-Emirates [Ggamma59(E3)Lys --Glu] was first described in a newborn from the United Arab Emirates. Here we describe the occurrence of this variant in a family of Sardinian ancestry. Direct DNA sequencing analysis of the selectively amplified Ggamma gene shows that the AAA --GAA transition, corresponding to a Lys --Glu substitution, is responsible for this abnormal hemoglobin (Hb). Our observation indicates a multiple origin of the mutation. In order to facilitate future studies at the level of population genetics, the structure of the entire Ggamma gene that carries the mutation was assessed and compared with that of normal Ggamma genes.

The adult beta-globin gene of Ammotragus lervia (Barbary sheep or aoudad) has been sequenced completely, including 185 base pairs of 5' flanking region and 168 base pairs 3' to the stop codon, and compared with that of other caprines such as goat (Capra hircus), wild Corsico-Sardinian (Ovis aries musimon) and Cypriot (O. a. ophion) mouflons, and domestic sheep (Ovis aries). The gene was identified as being located on a triplicated four-gene set cluster containing the HBBA locus (A-haplotype) as is the case of goat, sheep of the Hb A type and Corsico-Sardinian mouflon. Phylogenetic analyses support the evidence that caprines share a common ancestor that probably carried the A-haplotype and that a more recent deletion of a gene set gave rise to the duplicated cluster containing the HBBB locus (B-haplotype) found in sheep of the Hb B type and Cypriot mouflon, which evolved independently. Data also suggests that the Ammotragus beta-globin gene is older than genes of the examined caprines and indicates it followed an independent evolution after separating from species having the same HBBA locus. Similarly, phylogenetic analyses of beta-globin chain sequences suggest a different evolution for globins coded by the HBBA locus with respect to the HBBB. Ammotragus beta-globin chain shows all the amino acids responsible for the low oxygen affinity of ruminant Hbs. Investigations on the oxygen transport properties indicate that the intrinsic oxygen affinity of aoudad Hb is higher than the Hb B of the domestic sheep and, at the same time, more similar to that of other A type Hbs, whereas in the presence of the Cl(-) effector the oxygen affinity is approximately the same as that of the other species.

The abnormal Hb F-Porto Torres [Agamma75(E19)Ile--Thr, 136(H14)Ala--Ser] was observed during a cord blood survey for hemoglobinopathies in North Sardinia. This silent variant showed the same mobility as Hb F-Sardinia in isoelectric focusing (IEF) of the tetramers, whereas the abnormal globin chain was clearly separated by acid-urea-Triton polyacrylamide gel electrophoresis (AUT-PAGE) from the normal Ggamma- and Agamma-globin chains. Separation of the globin chains by reversed phase high performance liquid chromatography (HPLC) indicated the following percentages: Ggamma 68.4, Agamma 14.0, Xgamma 17.6, that strongly suggested the abnormal chain as being a variant of the Agamma-globin. Sequencing of the gamma-globin genes indicated that the mutated gene was in fact an Agamma with two nucleotide replacements, one being the ATA--ACA (Ile--Thr) at codon 75 (the so-called AgammaT of the rather common Hb F-Sardinia) and the second the GCA--TCA (Ala--Ser) at codon 136. This new variant is the seventh having the sequence of the AgammaT chain with an additional mutation so far described and the third characterized by gene sequencing.

Four novel alleles of the adult beta-globin gene of Capra hircus were observed in an extended study on hemoglobin polymorphism in goat breeds living in the island of Sardinia Nucleotide sequencing showed that one of these alleles is due to a 2 bp substitution at codon 125 (CTG --GAG, Leu --Glu). Two substitutions, the silent CTT --CTC for Leu at codon 78 and the conservative AAG --AGG (Lys --Arg) at codon 104, are shared by the other three alleles, two of them having additional mutations, which suggests a common origin. The allele we provisionally called the beta(Y) shares four out of five amino acid substitutions, together with the same polymorphisms in the IVSII, we observed previously in the rather common beta(E) gene. This evidence allowed the origin of the beta(E) gene to be better characterized. The data increase to seven the number of alleles at the goat beta(A)-globin locus characterized thus far at the molecular level. A simplified nomenclaturefor the increasing number of goat beta-globin alleles is presented.

As in most vertebrates, the goat α-globin gene locus is duplicated though producing Iα and IIα globin chains that differ in three amino acid residues [[1]–[3]]. As the result of an unusual evolutionary history, however, a goat (β-globin gene cluster consists of 12 genes organized as a triplicated four-gene set located on chromosome 7: 5’-eI-eII-ψβX-βC-eIII-eIV-ψβY-βA-eV-eVI-ψβZ-βF-3’[[4]-[6]]. The βA-globin gene is expressed in adult animals, whereas βF and βC genes are expressed in the fetus and in juveniles up to 6 months of age, respectively [[7]]. During the first year of postnatal life, the synthesis of pre-adult βC-globin is supplanted by the synthesis of adult βA. The βC→βA switch is reversible and the reactivation of the βC synthesis, at the expense of βA, can be induced by anemia, hypoxia, or the administration of erythropoietin [[1],[8]]. Due to this unusual feature, which is also common in sheep hemoglobin (Hb) type A and in Sardinian mouflon [[5], [7], [9], [10]], the organization of globin genes, the nucleotide sequence, and the evolution of goat and sheep globin genes have been extensively studied [[1]–[2], [11]–[13]].