Mitochondrial Hypervariable Region Research Articles

Genome-wide single-nucleotide polymorphism data and mitochondrial hypervariable region 1 nucleotide sequence reveal the origin of the Akhal-Teke horse.

The study investigated the origin of the Akhal-Teke horse using genome-wide single-nucleotide polymorphism (SNP) data and mitochondrial hypervariable region 1 (HVR-1) nucleotide sequences. Genome-wide SNP data from 22 breeds (481 horses) and mitochondrial HVR-1 sequences from 24 breeds (544 sequences) worldwide to examine the origin of the Akhal- Teke horse. The data were analyzed using principal component analysis, linkage disequilibrium analysis, neighbor-joining dendrograms, and ancestry inference to determine the population relationships, ancestral source, genetic structure, and relationships with other varieties. A close genetic relationship between the Akhal-Teke horse and horses from the Middle East was found. Analysis of mitochondrial HVR-1 sequences showed that there were no shared haplotypes between the Akhal-Teke and Tarpan horses, and the mitochondrial data indicated that the Akhal-Teke horse has not historically expanded its group. Ancestral inference suggested that Arabian and Caspian horses were the likely ancestors of the Akhal- Teke horse. The Akhal-Teke horse originated in the Middle East.

The Analysis of Genetic Polymorphism on Mitochondrial Hypervariable Region III in Thai Population.

Mitochondrial DNA (mtDNA) analysis is a genetic marker for human identification, especially matrilineal inheritance. Hypervariable regions (HVR) I and II of mtDNA have been currently performed for human identification worldwide. Further examination of HVRIII has been conducted with the aim of enhancing the power of discrimination. The aim of this research is to provide informative data on the polymorphisms of HVRIII in the Thai population in order to establish a national database for human identification. Thai people who were unrelated through the maternal lineage were recruited for blood collections. The mtDNA was extracted by Chelex extraction, amplified by polymerase chain reaction, and analyzed using Sequencing Analysis Software. The most common mutation in HVRIII was base substitution, followed by deletion and insertion. We discovered 40 unique haplotypes, with haplotype 489C being the most frequent. The haplotype diversity, power of discrimination, and random match probability were 0.8014, 0.7987, and 0.2013, respectively. Five-CA repeats were the most frequently observed in nucleotide positions 514-523. Our database can be employed as supplementary markers in addition to nuclear deoxyribonucleic acid (DNA) markers in forensic investigations. Moreover, the data could potentially enhance genetic identification and anthropological genetics research in Thailand.

Mitochondrial DNA (CA)n dinucleotide repeat variations in Sinhalese and Vedda populations in Sri Lanka.

Sinhalese and Vedda people are respectively the major ethnic group and the descendants of the probably earliest inhabitants of Sri Lanka, both believed to have a long history of settlement on the island. However, very little information is available on the origin and possible migration patterns of the two populations. Some studies have focused on (CA) dinucleotide repeat variations located in the mitochondrial hypervariable region 3 (HVS3) (base pairs 514-524) as a useful biomarker to understand migration patterns of different populations. Hence, here we analyze these repeat variations in these two ethnic groups to understand their historical roots and possible patterns of gene flow. Blood samples were collected from healthy, maternally unrelated individuals (N = 109) and mitochondrial D-loop was amplified and sequenced. The (CA)4 dinucleotide repeat in hypervariable region 3 was detected in the majority of Vedda samples while the remaining samples were defined by a (CA)5 cluster. In contrast, the (CA)5 repeat was the most frequent among Sinhalese followed by (CA)4 and (CA)7 repeats. Haplogroup diversity of (CA)4 variation indicated that the majority of Sinhalese individuals grouped into the M30 haplogroup while Vedda clustered into the R5a2b and U7a2 haplogroups. No significant differences in diversity measures were observed among the two populations. However, Multidimensional Scaling indicated a separate clustering for aboriginal Vedda and contemporary Sinhalese populations. Results from this study can be used together with mitochondrial DNA information from hypervariable regions 1 and 2 to perform anthropological and forensic investigations in the two populations studied.

Sanger sequencing of mitochondrial hypervariable region of ancient samples for DNA authentication and screening before high-throughput sequencing

Working with ancient DNA is challenging and requires an authentication step. We analyzed eleven badly preserved samples from the Nitra culture with the influence of Únětice culture dated to the 4000 BP Bronze Age. We present estimated mitochondrial haplogroups of four samples based on Sanger sequencing of HVR1 and a part of HVR2.Sanger sequencing has strong limitations in haplogroup prediction, especially when working with ancient DNA. However, Sanger sequencing in this study is featured as a control step to provide us with quality results of mitochondrial DNA and as a screening of present haplogroups. DNA quality estimation is further supported by sample concentration and fragment analysis. The presence of mitochondrial DNA is confirmed by PCR. However, the Sanger sequencing of mitochondrial DNA can confirm its presence in good quality for further sequencing. Therefore, only suitable samples were selected for further high-throughput sequencing of the whole mitogenome.

The Lady from Basel’s Barfüsserkirche – Molecular confirmation of the Mummy’s identity through mitochondrial DNA of living relatives spanning 22 generations

The identity of the mummified Lady from the Barfüsser Church in Basel, Switzerland has been unsolved for decades, despite the prominent location of the burial place in front of the choir screen. A recent multidisciplinary research approach came up with a possible candidate, Anna Catharina Bischoff who died in Basel in 1787 with an age of 69 years (1719–1787). To verify the identity of the mummy, genealogists of the Citizen Science Basel discovered three living individuals of the maternal lineage of two different family branches, separated from Anna Catharina Bischoff by up to 22 generations. In this study we compare the ancient mitochondrial DNA of the mummy recovered from a premolar to the mitochondrial DNA of these three candidates. Initially the mitochondrial hypervariable regions I and II of the living individuals were screened using the Sanger sequencing method. This was followed by a mitochondrial capture approach and next generation sequencing to enrich for the whole mitochondrial genome of the mummy and one living person. A full mitochondrial genome has been recovered of both individuals sharing an identical haplotype. The sequence was assigned to the mitochondrial haplogroup U5a1+!16192 including two private mutations 10006G and 16293C. Only by using an interdisciplinary approach combining ancient DNA analysis and genealogy a maternal lineage of a non-noble family spanning 22 generations could be confirmed.

Mitochondrial HVRI and whole mitogenome sequence variations portray similar scenarios on the genetic structure and ancestry of northeast Africans

A significant portion of the current human adaptive and demographic traits is believed to have originated in north-east Africa, the putative scene of early human evolution. However interesting such assumption might be, the genetic structure and phenotypic traits of populations in this part of the globe remains poorly studied, including the widely analyzed genome of the mitochondria. Mitochondrial hypervariable region and whole mitogenomes of Sudanese and South Sudanese were compared to regional and global sequences. Haplotypes, mismatch distribution, PCAs, FST, Ne, and phylogenetic trees were constructed and analyzed. The HVRI in particular and whole mitogenomes produced robust phylogenies that were greatly concordant. Observed haplotypes were found to belong mainly to the major mitochondrial macrohapolgroups L0, L1, L2, L4, L5, L3, M and N. Expectedly the L0 was confined to populations previously shown to occupy the deepest and most ancestral lineages in the human evolutionary tree. The observed regional variation and diversity, depicted in various metrics imply that the female lineages in this part of Africa are likely to have been shaped by a longer history of in-situ evolution.

Reproductive Isolation and Morphological Discrimination of Myotis myotis Macrocephalicus and M. Blythii s.l. (Chiroptera: Vespertilionidae) in Turkey

In order to facilitate taxonomic identification and assess reproductive isolation between Myotis myotis macrocephalicus and M. blythii s.l., at the interface between the Balkan Peninsula and Middle East, we analyzed microsatellite markers and a fragment of the mitochondrial hyper-variable control region. We also examined two external morphological traits of the sampled bats, length of upper tooth row (CM3) and forearm (FA) length, to assess the reliability of distinguishing them morphologically. Myotis blythii s.l. had higher allelic and haplotype richness than M. m. macrocephalicus, supporting the hypothesis that the former was present in Asia Minor before the arrival of M. myotis from Europe. The microsatellite markers analyses suggested that all sampled individuals were ‘pure’ forms of either species. Both species, however, shared a few mitochondrial haplotypes, which seem to document past introgression events rather than the recurrent interbreeding. Length of CM3 and FA increased with longitude in both species. A binary logistic regression model, using CM3 measurements and longitude of the sampling locality, correctly assigned 98% of genetically identified individuals. The sex-specific binary regression models, based on FA measurements and longitude were correct for 96% females and 98% males.

First analysis of mitochondrial lineages from the eastern Pampa–Patagonia transition during the final late Holocene

Studies on population genetics have become highly relevant for understanding the evolutionary history of human settlement in southern South America. The eastern Pampa-Patagonia transition is an area that stands out due to its complex population dynamics, especially during the last about 1,000 years BP. The aim of this work is to characterize the maternal lineages of individuals buried in the Paso Alsina 1 archaeological site (ca. 500 years BP) through the analysis of mitochondrial genetic variability, in order to discuss the population models previously proposed for the southern cone of South America. Mitochondrial HyperVariable Region I sequences were analyzed on teeth belonging to 20 adult individuals. Statistical analyses were carried out to compare the interpopulation and intrapopulation molecular variability between the results obtained in this work and those previously published data from pre-Hispanic human groups. D1 haplotype network was constructed drawing from data on ancient and extant population group samples. Thirteen sequences (65%) were obtained from the 20 analyzed samples. The maternal lineages or subhaplogroups identified were D1g (69.24%), C1 (15.38%), D1 (7.69%), and D1j (7.69%). There was low haplotype variability within the site; some individuals could be matrilineally related. The subhaplogroups registered in Paso Alsina 1 site are in accordance with those reported for ancient and contemporary Patagonian populations. The results suggest that an initial nucleus of individuals carrying mostly subhaplogroup D1g settled in northern Patagonia, from which local diversity of this matrilineage could have arisen. The existence of gene flow in the final late Holocene with groups from Northern Andean Patagonia, as well as from Central Argentina, is proposed. The D1j variant probably developed in the latter region.

Nucleotide sequence analysis of mitochondrial DNA hypervariable region II and inter HVR in Thais

ABSTRACT In this study, the nucleotide sequences of the mitochondrial DNA hypervariable region II (HVRII) and inter HVR in the Thai population were investigated. Buccal swab samples were randomly collected from 100 unrelated healthy individuals residing in Thailand. The analysis of HVRII revealed a total of 65 different haplotypes of which 47 were unique and 18 were found in more than one individual. The most frequent haplotype observed was A73G-A249D-A263G-309.1C–315.1C (7%). Nucleotide transition from adenine (A) to guanine (G) was the most frequent substitution. Nucleotide transversions were also observed but with a lower frequency compared to nucleotide transitions. Insertions of C (57%), CC (14%), and CCC (1%) were found at position 309. Twenty-six samples were found to exhibit nucleotide deletion at position 249. The haplotype diversity, random match probability, and discrimination power were calculated to be 0.9859, 0.0240, and 0.976 respectively. In addition, the outside HVR fragment within the control region at positions 16381–72 (inter HVRI/HVRII) and 341–437 (inter HVRII/HVRIII) were sequenced in order to examine the polymorphic sites. High polymorphism was found at positions 16519, 150, 249, and 309. It was concluded that the nucleotide sequence variations in HVRII and inter HVRI/HVRII would be useful for forensic identification.

Tracing the genetic legacy in the French Caribbean islands: A study of mitochondrial and Y-chromosome lineages in the Guadeloupe archipelago.

The history of the Caribbean region is marked by numerous and various successive migration waves that resulted in a global blending of African, European, and Amerindian lineages. As the origin and genetic composition of the current population of French Caribbean islands has not been studied to date, we used both mitochondrial DNA and Y-chromosome markers to complete the characterization of the dynamics of admixture in the Guadeloupe archipelago. We sequenced the mitochondrial hypervariable regions and genotyped mitochondrial and Y-chromosomal single nucleotide polymorphisms (SNPs) of 198 individuals from five localities of the Guadeloupe archipelago. The maternal haplogroups revealed a blend of 85% African lineages (mainly traced to Western, West-Central, and South-Eastern Africa), 12.5% Eurasian lineages, and 0.5% Amerindian lineages. We highlighted disequilibria between European paternal contribution (44%) and European maternal contribution (7%), pointing out an important sexual asymmetry. Finally, the estimated Native American component was strikingly low and supported the near-extinction of native lineages in the region. We confirmed that all historically known migratory events indeed left a visible genetic imprint in the contemporary Caribbean populations. The data gathered clearly demonstrated the significant impact of the transatlantic slave trade on the Guadeloupean population's constitution. Altogether, the data in our study confirm that in the Caribbean region, human population variation is correlated with colonial and postcolonial policies and unique island histories.

Phenotypic, Genetic, and Cytogenetic Evidence of Hybridization Between Species of Trans-Andean Tamarins (Genus Saguinus)

Incomplete reproductive isolation and hybridization is relatively frequent in primates. However, no cases of hybridization between formally recognized species have been reported in tamarins (genus Saguinus), a highly specious group of Neotropical primates. Here, we provide evidence from different sources to demonstrate three cases of hybridization in captivity between species of Saguinus distributed west of the Andes (trans-Andean). To do this, we described fur color patterns, genotyped 12 microsatellite loci, sequenced the mitochondrial hypervariable region I, and generated chromosomal R bands for the three formally recognized species and the new hybrids of trans-Andean tamarins. We identified one case of interbreeding between the white-footed tamarin (Saguinus leucopus) and the cotton-top tamarin (S. œdipus) and two independent reciprocal crosses of S. leucopus and the Geoffroy’s tamarin (S. geoffroyi). All these hybrids exhibit intermediate phenotypes between parental species, and genetic data are consistent with first-generation hybridization. Cytogenetic data suggest that the S. leucopus × S. œdipus hybrid is sterile, as it is a female with XY karyotype apparently affected by a condition known as gonadal dysgenesis. Trans-Andean tamarin species occur in northwest Colombia with parapatric distributions bounded by major rivers. Potential contact zones, either natural or anthropogenic, might facilitate hybridization in the wild, but this scenario remains to be assessed. Our findings warrant future studies focused on the evolutionary mechanisms of reproductive isolation in tamarins. Given the risk of hybridization, caution should be taken in management and conservation of tamarins.

New insights into mitogenomic phylogeny and copy number in eight indigenous sheep populations based on the ATP synthase and cytochrome c oxidase genes

The origins and phylogeny of different sheep breeds has been widely studied using polymorphisms within the mitochondrial hypervariable region. However, little is known about the mitochondrial DNA (mtDNA) content and phylogeny based on mtDNA protein-coding genes. In this study, we assessed the phylogeny and copy number of the mtDNA in eight indigenous (population size, n=184) and three introduced (n=66) sheep breeds in China based on five mitochondrial coding genes (COX1, COX2, ATP8, ATP6 and COX3). The mean haplotype and nucleotide diversities were 0.944 and 0.00322, respectively. We identified a correlation between the lineages distribution and the genetic distance, whereby Valley-type Tibetan sheep had a closer genetic relationship with introduced breeds (Dorper, Poll Dorset and Suffolk) than with other indigenous breeds. Similarly, the Median-joining profile of haplotypes revealed the distribution of clusters according to genetic differences. Moreover, copy number analysis based on the five mitochondrial coding genes was affected by the genetic distance combining with genetic phylogeny; we also identified obvious non-synonymous mutations in ATP6 between the different levels of copy number expressions. These results imply that differences in mitogenomic compositions resulting from geographical separation lead to differences in mitochondrial function.

Genetic diversity, phylogeographic structure and effect of selection at the mitochondrial hypervariable region of Nigerian chicken populations.

In this study, the maternal genetic diversity, phylogenetic relationship and effect of natural selection on indigenous chickens from Nigeria were assessed. A total of 397-bp fragment of the mitochondrial DNA (mtDNA) D-loop region of 171 indigenous chickens from four populations of Nigeria and four commercial egg line strains (two Anak titan, one Giriraja and one Yaffa) as out-groups were analysed. Thirty-one haplotypes (28 from Nigerian chickens and three from commercial strains) and 34 polymorphic sites were identified. The mean haplotypic and nucleotide diversity were found to be 0.39 ± 0.05 and 0.02 ± 0.02, respectively. Majority of Nigerian chicken haplotypes observed were grouped into haplogroup D which originated from Indian subcontinent, suggesting a single maternal lineage. Genetic variation within and between populations accounted for 97.30 and 2.70% of the total genetic variation, respectively, which is in agreement with a recent and maternal founding effect. High number (4) of negatively selected sites observed based on single likelihood ancestral counting (SLAC) model indicated that the sampled Nigerian chicken populations were undergoing purifying selection. This study concluded that there was relatively high genetic diversity and differentiation, thus, this information will probably paveway for further evaluation studies, preservation and improvement of Nigerian chickens as genetic resources towards ensuring food security.

Taming the late Quaternary phylogeography of the Eurasiatic wild ass through ancient and modern DNA.

Taxonomic over-splitting of extinct or endangered taxa, due to an incomplete knowledge of both skeletal morphological variability and the geographical ranges of past populations, continues to confuse the link between isolated extant populations and their ancestors. This is particularly problematic with the genus Equus. To more reliably determine the evolution and phylogeographic history of the endangered Asiatic wild ass, we studied the genetic diversity and inter-relationships of both extinct and extant populations over the last 100,000 years, including samples throughout its previous range from Western Europe to Southwest and East Asia. Using 229 bp of the mitochondrial hypervariable region, an approach which allowed the inclusion of information from extremely poorly preserved ancient samples, we classify all non-African wild asses into eleven clades that show a clear phylogeographic structure revealing their phylogenetic history. This study places the extinct European wild ass, E. hydruntinus, the phylogeny of which has been debated since the end of the 19th century, into its phylogenetic context within the Asiatic wild asses and reveals recent mitochondrial introgression between populations currently regarded as separate species. The phylogeographic organization of clades resulting from these efforts can be used not only to improve future taxonomic determination of a poorly characterized group of equids, but also to identify historic ranges, interbreeding events between various populations, and the impact of ancient climatic changes. In addition, appropriately placing extant relict populations into a broader phylogeographic and genetic context can better inform ongoing conservation strategies for this highly-endangered species.

A unique, highly variable mitochondrial gene with coding capacity of Heterosigma akashiwo, class Raphidophyceae

Information related to geographical distribution and local strain composition is essential to an understanding of the dynamics of harmful algae in the environment. Previously, we identified a highly variable segment on the mitochondrial genome of Heterosigma akashiwo, a bloom-forming noxious unicellular algal species. Here, we assessed the utility of the mitochondrial hypervariable region for the phylogeographic study of the alga for different distance ranges. The sequences of H. akashiwo strains obtained from different geographic origins were successfully amplified and sequenced. We found differences among the sequences of the strains obtained from high-latitude regions of Northern Pacific/Atlantic; lower latitude regions of North America West Coast; and other regions including Brazil, Japan, Singapore, and North America East Coast. On the other hand, no strong geographic patterns for the sequences among Japanese strains were observed. Therefore, the hypervariable segment may be useful to distinguish H. akashiwo strains originated from distant regions (Atlantic/Pacific, high/low latitudes), rather than regions separated by shorter distances. The sequence contains an open reading frame coding for a protein with unknown function, and the transcription of the gene was confirmed by RNA-seq analysis. Despite the sequence variations observed among H. akashiwo strains originating in different parts of the world, three domains of the protein were highly conserved among all of the strains, suggesting that they may be important to the function of the protein.

Phylogenetic analysis of Tibetan mastiffs based on mitochondrial hypervariable region I.

Recently, the number of Tibetan mastiffs, which is a precious germplasm resource and cultural heritage, is decreasing sharply. Therefore, the genetic diversity of Tibetan mastiffs needs to be studied to clarify its phylogenetics relationships and lay the foundation for resource protection, rational development and utilization of Tibetan mastiffs. We sequenced hypervariable region I of mitochondrial DNA (mtDNA) of 110 individuals from Tibet region and Gansu province. A total of 12 polymorphic sites were identified which defined eight haplotypes of which H4 and H8 were unique to Tibetan population with H8 being identified first. The haplotype diversity (Hd: 0.808), nucleotide diversity (Pi: 0.603%), the average number of nucleotide difference (K: 3.917) of Tibetan mastiffs from Gansu were higher than those from Tibet region (Hd: 0.794; Pi: 0.589%; K: 3.831), which revealed higher genetic diversity in Gansu. In terms of total population, the genetic variation was low. The median-joining network and phylogenetic tree based on the mtDNA hypervariable region I showed that Tibetan mastiffs originated from grey wolves, as the other domestic dogs and had different history of maternal origin. The mismatch distribution analysis and neutrality tests indicated that Tibetan mastiffs were in genetic equilibrium or in a population decline.

Analysis of human mitochondrial DNA sequences from fecally polluted environmental waters as a tool to study population diversity.

Mitochondrial signature sequences have frequently been used to study human population diversity around the world. Traditionally, this requires obtaining samples directly from individuals which is cumbersome, time consuming and limited to the number of individuals that participated in these types of surveys. Here, we used environmental DNA extracts to determine the presence and sequence variability of human mitochondrial sequences as a means to study the diversity of populations inhabiting in areas nearby a tropical watershed impacted with human fecal pollution. We used high-throughput sequencing (Illumina) and barcoding to obtain thousands of sequences from the mitochondrial hypervariable region 2 (HVR2) and determined the different haplotypes present in 10 different water samples. Sequence analyses indicated a total of 19 distinct variants with frequency greater than 5%. The HVR2 sequences were associated with haplogroups of West Eurasian (57.6%), Sub-Saharan African (23.9%), and American Indian (11%) ancestry. This was in relative accordance with population census data from the watershed sites. The results from this study demonstrates the potential value of mitochondrial sequence data retrieved from fecally impacted environmental waters to study the population diversity of local municipalities. This environmental DNA approach may also have other public health implications such as tracking background levels of human mitochondrial genes associated with diseases. It may be possible to expand this approach to other animal species inhabiting or using natural water systems.

Effects of Hair dyes on Sequence Analysis of Hair Mitochondrial DNA Hypervariable Region 1

Hair can be a valuable source of DNA especially in forensic casework and for noninvasive studies of human, when blood samples not available. This study emphasizes the impact of hair dyes on DNA sequence analysis. Samples collected from forty Iraqi families; each sample was divided in to two parts hair follicles and hair shaft. DNA extracted by using two different techniques, Phenol-chloroform (organic) method and prepFiler forensic DNA extraction kit. After quantification of DNA by real time PCR to confirm the exact DNA yield, Mitochondrial DNA (MtDNA) hypervariable region 1 successfully amplified from (50% of samples include hair follicle and 20% samples include shaft only), which all extracted by organic method. Whereas by using prepFiler kit the ratio of amplification success reach to 95% of samples included hair follicles, but there wais no DNA outcome from hair shaft by using this kit. Our results demonstrate that treated hair by dyed or henna had a significant influence on the sequence analysis results. Organic method was an appropriate method for extraction DNA from hair shaft, since this method used for extracting the old and degraded samples. While prepFiler DNA extraction kit was more convenient for isolation DNA from, hair samples included follicles only with excellent result.

Three Thousand Years of Continuity in the Maternal Lineages of Ancient Sheep (Ovis aries) in Estonia.

Although sheep (Ovis aries) have been one of the most exploited domestic animals in Estonia since the Late Bronze Age, relatively little is known about their genetic history. Here, we explore temporal changes in Estonian sheep populations and their mitochondrial genetic diversity over the last 3000 years. We target a 558 base pair fragment of the mitochondrial hypervariable region in 115 ancient sheep from 71 sites in Estonia (c. 1200 BC–AD 1900s), 19 ancient samples from Latvia, Russia, Poland and Greece (6800 BC–AD 1700), as well as 44 samples of modern Kihnu native sheep breed. Our analyses revealed: (1) 49 mitochondrial haplotypes, associated with sheep haplogroups A and B; (2) high haplotype diversity in Estonian ancient sheep; (3) continuity in mtDNA haplotypes through time; (4) possible population expansion during the first centuries of the Middle Ages (associated with the establishment of the new power regime related to 13th century crusades); (5) significant difference in genetic diversity between ancient populations and modern native sheep, in agreement with the beginning of large-scale breeding in the 19th century and population decline in local sheep. Overall, our results suggest that in spite of the observed fluctuations in ancient sheep populations, and changes in the natural and historical conditions, the utilisation of local sheep has been constant in the territory of Estonia, displaying matrilineal continuity from the Middle Bronze Age through the Modern Period, and into modern native sheep.

Population structure and historical demography of South American sea lions provide insights into the catastrophic decline of a marine mammal population.

Understanding the causes of population decline is crucial for conservation management. We therefore used genetic analysis both to provide baseline data on population structure and to evaluate hypotheses for the catastrophic decline of the South American sea lion (Otaria flavescens) at the Falkland Islands (Malvinas) in the South Atlantic. We genotyped 259 animals from 23 colonies across the Falklands at 281 bp of the mitochondrial hypervariable region and 22 microsatellites. A weak signature of population structure was detected, genetic diversity was moderately high in comparison with other pinniped species, and no evidence was found for the decline being associated with a strong demographic bottleneck. By combining our mitochondrial data with published sequences from Argentina, Brazil, Chile and Peru, we also uncovered strong maternally directed population structure across the geographical range of the species. In particular, very few shared haplotypes were found between the Falklands and South America, and this was reflected in correspondingly low migration rate estimates. These findings do not support the prominent hypothesis that the decline was caused by migration to Argentina, where large-scale commercial harvesting operations claimed over half a million animals. Thus, our study not only provides baseline data for conservation management but also reveals the potential for genetic studies to shed light upon long-standing questions pertaining to the history and fate of natural populations.