View Full Version : Upcoming paper on ancient Sardinian dna

14-09-16, 20:06
This is part of a study of the B-Thessalmia mutation

"Β-Thalassemia cod39 mutation found in an individual from a Punic necropolis (VI century BC-II
century AD) in Sardinia
Claudia Viganó1

Institute of Evolutionary Medicine, University of Zurich, Zurich, Switzerland, 2
Institute of Legal
Medicine, University of Zurich, Zurich, Switzerland
The Mediterranean island of Sardinia has been infected by malaria since VI century BC when, accordingto historical records, the Punics brought it from Northern Africa. Nowadays the island has the highest
frequencies of malaria genetic adaptations in Europe, with 10.7% of the population heterozygous forB-Thalassemia. In more than 95% of cases, it is caused by a single point mutation in cod39 of the betaglobin
gene. However, it is still debated whether the high frequency of cod39 mutation in Sardinia,
and its presence in the Western Mediterranean, reflects the colonization of the Mediterranean by the
Punics or a later migration of people out of Sardinia. Here we developed a PCR based method to
analyse 19 Sardinian samples collected in Punic and Roman necropolis. The Cod39 mutation was found
in an individual from the Punic period. In order to better understand the origin of this individual,
mitochondrial and Y chromosome haplotypes were also investigated. The mitochondrial haplotype is
U5a1, which is common in both Sardinian and Punic population. Y-chromosome haplogroup is I and is
present in 40.7% of the Sardinian population and in less than 2% within the populations in the areas
were the Punics originated. Further analysis to investigate the Y-chromosome haplogroup’s
subclades may give more information about the provenance of the individual and therefore about the
origin of cod39 mutation.

This just highlights some of the difficulties in interpretation of ancient dna. This is a person definitely buried in a Punic context. However, based on yDna it seems unlikely the direct paternal ancestry is from North Africa. What the autsomal dna would disclose is unclear, or how it relates to the uniparental markers.

14-09-16, 22:33
Something is wrong here. If it is not a typing mistake, U5a1 is actually supposed to be absent from Sardinia, North Africa or the Levant. U5a1 is typically Northeast European and is clearly linked it to the spread of Y-haplogroup R1a (http://www.eupedia.com/europe/Haplogroup_U5_mtDNA.shtml#history). The only typically Sardinian subclade of U5 is U5b3. North African U5 is U5b1.

15-09-16, 02:06
I don't know if there's a typo there or not, but a few mtDna U5a have been found in Sardinia.

A couple are listed here in Boattini et al:

I couldn't quickly find U5a1 in North Africa, but I did find U5a2b:

"some haplotypes within U5a2b were detected in Mediterranean populations as well (Italians, Tunisians) (Figure 1 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858207/figure/pone-0010285-g001/), Figure S1 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858207/#pone.0010285.s001)). "

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858207/#pone.0010285.s00 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858207/#pone.0010285.s001)

Unfortunately, as the resolution is not good in the Boattini study we don't know if there's a correspondence with this North African U5a.

Either way, it's not U5a1.

We know there's U5b in Sardinia and North Africa, so perhaps that's what they meant. From Cristina Fraumene et al 2006, these are the frequencies from Urzulei in Sardinia:


Ed. Sorry, I forgot to provide the citations for Fraumen et al:

15-09-16, 10:33
There might be a tiny percentage of U5a1 in Sardinia now, because of the Romans, Goths and Vandals that settled there. But there shouldn't have been any in pre-Roman times.

U5a2b is found in all Europe, but especially the northern half of Europe (Germanic and Slavic countries in particular). It would also have been brought by the Vandals to North Africa, IMO.

The authors probably meant U5b1, which is the main Iberian/Basque clade, also found in Sardinia.

15-09-16, 11:53
U5a1 could have reached the island with the Bell Beakers.

07-12-16, 12:38
Punic were East Mediterranean transplanted in the Western Mediterranean, not native of North Africa at all.