Genetic history of Italy
Encyclopedia
During prehistory
Prehistory
Prehistory is the span of time before recorded history. Prehistory can refer to the period of human existence before the availability of those written records with which recorded history begins. More broadly, it refers to all the time preceding human existence and the invention of writing...

 Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...

 was populated by different but very similar Indo-European groups, later collectively listed amongst the Ancient peoples of Italy, of whom the Italic
Italic languages
The Italic subfamily is a member of the Indo-European language family. It includes the Romance languages derived from Latin , and a number of extinct languages of the Italian Peninsula, including Umbrian, Oscan, Faliscan, and Latin.In the past various definitions of "Italic" have prevailed...

 one was predominant.

Not all of these various peoples were linguistically or ethnically closely related. Some of them spoke Italic languages
Italic languages
The Italic subfamily is a member of the Indo-European language family. It includes the Romance languages derived from Latin , and a number of extinct languages of the Italian Peninsula, including Umbrian, Oscan, Faliscan, and Latin.In the past various definitions of "Italic" have prevailed...

, others spoke Greek
Ancient Greek
Ancient Greek is the stage of the Greek language in the periods spanning the times c. 9th–6th centuries BC, , c. 5th–4th centuries BC , and the c. 3rd century BC – 6th century AD of ancient Greece and the ancient world; being predated in the 2nd millennium BC by Mycenaean Greek...

 because of the arrival of Hellenic
Ancient Greece
Ancient Greece is a civilization belonging to a period of Greek history that lasted from the Archaic period of the 8th to 6th centuries BC to the end of antiquity. Immediately following this period was the beginning of the Early Middle Ages and the Byzantine era. Included in Ancient Greece is the...

 colonists, while others belonged to another Indo-European branch (Ligurian, Venetic
Venetic language
Venetic is an extinct Indo-European language that was spoken in ancient times in the North East of Italy and part of modern Slovenia, between the Po River delta and the southern fringe of the Alps....

, Lepontic
Lepontic language
Lepontic is an extinct Alpine language that was spoken in parts of Rhaetia and Cisalpine Gaul between 550 and 100 BC. It was a Celtic language, although its exact classification within Celtic has been the object of debate...

) or were non-Indo-European (Etruscan
Etruscan language
The Etruscan language was spoken and written by the Etruscan civilization, in what is present-day Italy, in the ancient region of Etruria and in parts of Lombardy, Veneto, and Emilia-Romagna...

, Raetic
Raetic language
Raetic is an extinct language spoken in the ancient region of Raetia in the Eastern Alps in pre-Roman and Roman times. It is documented by a limited number of short inscriptions in two variants of the Etruscan alphabet...

).

Following scientific research carried out by dutch geneticists, Italy has proven to be one of the last two remaining genetic islands across Europe (along with Finland), this due to the presence of the Alpine mountain chain
Alps
The Alps is one of the great mountain range systems of Europe, stretching from Austria and Slovenia in the east through Italy, Switzerland, Liechtenstein and Germany to France in the west....

 that, over the centuries, has prevented large migration flows aimed at colonizing the Italian lands.

Historical population of Italy

• The modern man appeared during the Upper Palaeolithic. Specimens of Aurignacian
Aurignacian
The Aurignacian culture is an archaeological culture of the Upper Palaeolithic, located in Europe and southwest Asia. It lasted broadly within the period from ca. 45,000 to 35,000 years ago in terms of conventional radiocarbon dating, or between ca. 47,000 and 41,000 years ago in terms of the most...

 age were discovered in the cave of Fumane and dated back about 34,000 years ago. During the Magdalenian
Magdalenian
The Magdalenian , refers to one of the later cultures of the Upper Paleolithic in western Europe, dating from around 17,000 BP to 9,000 BP...

 period the first men from the Pyrenees
Pyrenees
The Pyrenees is a range of mountains in southwest Europe that forms a natural border between France and Spain...

 populated Sardinia
Sardinia
Sardinia is the second-largest island in the Mediterranean Sea . It is an autonomous region of Italy, and the nearest land masses are the French island of Corsica, the Italian Peninsula, Sicily, Tunisia and the Spanish Balearic Islands.The name Sardinia is from the pre-Roman noun *sard[],...

 .

• During the Neolithic
Neolithic
The Neolithic Age, Era, or Period, or New Stone Age, was a period in the development of human technology, beginning about 9500 BC in some parts of the Middle East, and later in other parts of the world. It is traditionally considered as the last part of the Stone Age...

 farming stable is introduced by people from the east and the first villages are built, the weapons become more sophisticated and the first objects in clay produced.

• In the late Neolithic era the use of copper
Copper
Copper is a chemical element with the symbol Cu and atomic number 29. It is a ductile metal with very high thermal and electrical conductivity. Pure copper is soft and malleable; an exposed surface has a reddish-orange tarnish...

 spreads and villages are built over piles near the lakes. In Sardinia, Sicily and part of “Continental Italy” the Beaker culture
Beaker culture
The Bell-Beaker culture , ca. 2400 – 1800 BC, is the term for a widely scattered cultural phenomenon of prehistoric western Europe starting in the late Neolithic or Chalcolithic running into the early Bronze Age...

, which probably represents the western branch of the Corded Ware culture
Corded Ware culture
The Corded Ware culture , alternatively characterized as the Battle Axe culture or Single Grave culture, is an enormous European archaeological horizon that begins in the late Neolithic , flourishes through the Copper Age and culminates in the early Bronze Age.Corded Ware culture is associated with...

, also spreads from North-West Europe,.

• During the Late Bronze Age
Bronze Age
The Bronze Age is a period characterized by the use of copper and its alloy bronze as the chief hard materials in the manufacture of some implements and weapons. Chronologically, it stands between the Stone Age and Iron Age...

 in Italy appears the Urnfield or Villanovan culture
Villanovan culture
The Villanovan culture was the earliest Iron Age culture of central and northern Italy, abruptly following the Bronze Age Terramare culture and giving way in the 7th century BC to an increasingly orientalizing culture influenced by Greek traders, which was followed without a severe break by the...

 characterized by the typical rite of incineration of the bodies originating from Central Europe, the use of iron spreads . In Sardinia the Nuragic civilization
Nuragic civilization
The Nuragic civilization was a civilization of Sardinia, lasting from the Bronze Age to the 2nd century AD. The name derives from its most characteristic monuments, the nuraghe. They consist of tower-fortresses, built starting from about 1800 BC...

 flourishes.

• from the 8th century BC Greek colonists settle on the southern coast and in Sicily and found cities, initiating what was later called Magna Graecia
Magna Graecia
Magna Græcia is the name of the coastal areas of Southern Italy on the Tarentine Gulf that were extensively colonized by Greek settlers; particularly the Achaean colonies of Tarentum, Crotone, and Sybaris, but also, more loosely, the cities of Cumae and Neapolis to the north...

. In the 5th century Celtic tribes from continental Europe settled in Northern Italy
Northern Italy
Northern Italy is a wide cultural, historical and geographical definition, without any administrative usage, used to indicate the northern part of the Italian state, also referred as Settentrione or Alta Italia...

 and parts of Central Italy
Central Italy
Central Italy is one of the five official statistical regions of Italy used by the National Institute of Statistics , a first level NUTS region and a European Parliament constituency...

. The Etruscan civilization
Etruscan civilization
Etruscan civilization is the modern English name given to a civilization of ancient Italy in the area corresponding roughly to Tuscany. The ancient Romans called its creators the Tusci or Etrusci...

 developed on the coast of Tuscany and Latium
Latium
Lazio is one of the 20 administrative regions of Italy, situated in the central peninsular section of the country. With about 5.7 million residents and a GDP of more than 170 billion euros, Lazio is the third most populated and the second richest region of Italy...

.

• With the Fall of the Roman Empire different populations of German origin intruded into Italy, the most significant was that of the Lombards
Lombards
The Lombards , also referred to as Longobards, were a Germanic tribe of Scandinavian origin, who from 568 to 774 ruled a Kingdom in Italy...

, who will try to unify politically the “Boot of Italy”.

Genetic composition of Italians Y-DNA

Percentages of the various Y-DNA haplogroups (male) to which belong the Italians
Italian people
The Italian people are an ethnic group that share a common Italian culture, ancestry and speak the Italian language as a mother tongue. Within Italy, Italians are defined by citizenship, regardless of ancestry or country of residence , and are distinguished from people...

  .
R1b R1a  I1 I2a
Haplogroup I2 (Y-DNA)
In human genetics, Haplogroup I2 is a Y-chromosome haplogroup. Until 2008, it was known as Haplogroup I1b. Haplogroup I2 might have originated in Southeastern Europe some 15,000 - 17,000 years ago and developed into three main subgroups : I2*, I2a, and I2b.-Subclades:Note: The systematic subclade...

 
I2b
Haplogroup I2 (Y-DNA)
In human genetics, Haplogroup I2 is a Y-chromosome haplogroup. Until 2008, it was known as Haplogroup I1b. Haplogroup I2 might have originated in Southeastern Europe some 15,000 - 17,000 years ago and developed into three main subgroups : I2*, I2a, and I2b.-Subclades:Note: The systematic subclade...

 
J
Haplogroup J (Y-DNA)
In human genetics, Haplogroup J is a Y-chromosome DNA haplogroup. It is one of the major male lines of all living men...

T
Haplogroup T (Y-DNA)
In human genetics, Haplogroup T is a human Y-chromosome DNA haplogroup. From 2002 to 2008, it was known as Haplogroup K2. It should not be confused with the mitochondrial DNA haplogroup T, of the same name....

 
G
Haplogroup G (Y-DNA)
In human genetics, Haplogroup G is a Y-chromosome haplogroup. It is a branch of Haplogroup F . Haplogroup G has an overall low frequency in most populations but is widely distributed within many ethnic groups of the Old World in Europe, northern and western Asia, northern Africa, the Middle East,...

 
E3b
% 49% 2,5% 2,5% 3% 1% 20% 4% 7% 11%


Haplogroup I has been present in Europe since the Paleolithic while haplogroups J, T, G, E1b1b1 have been present in Europe since the Neolithic, or in some cases possibly arrived shortly before in the Mesolithic, and R1b, R1a arrived in Chalcolithic.

Y-DNA genetic diversity

In most of the Po Valley, Emilia and Romagna, more of the population belongs to Haplogroup R1b
Haplogroup R1b (Y-DNA)
The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia. T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present....

. This percentage comes in low percentages in south-central peninsula (25%), mainly in the south (14% in Calabria and Sicily ).

Distribution of Italian Y-chromosome DNA (Y-DNA) haplogroups by region in percentage .
Region I1
Haplogroup I1 (Y-DNA)
In human genetics, Haplogroup I1 is a Y chromosome haplogroup occurring at greatest frequency in Scandinavia, associated with the mutations identified as M253, M307, P30, and P40. These are known as single nucleotide polymorphisms . It is a subclade of Haplogroup I. Before a reclassification in...

 
I2a  I2b  R1a
Haplogroup R1a (Y-DNA)
Haplogroup R1a is the phylogenetic name of a major clade of Human Y-chromosome DNA haplogroups. In other words, it is a way of grouping a significant part of all modern men according to a shared male-line ancestor. It is common in many parts of Eurasia and is frequently discussed in human...

 
R1b
Haplogroup R1b (Y-DNA)
The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia. T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present....

 
G2a  J2
Haplogroup J2 (Y-DNA)
In human genetics, Haplogroup J2 is a Y-chromosome haplogroup which is a subdivision of haplogroup J. It is further divided into two complementary clades, J2a-M410 and J2b-M12.-Origins:...

 
J1
Haplogroup J1 (Y-DNA)
In human genetics, Y DNA haplogroup J1, also known as J-M267, is a sub-haplogroup of Y DNA haplogroup J, along with its sibling clade Y DNA haplogroup J2. Men with this type of Y DNA share a common paternal ancestry, which is demonstrated and defined by the presence of the SNP mutation referred to...

 
E1b1b  T + (L)
Haplogroup T (Y-DNA)
In human genetics, Haplogroup T is a human Y-chromosome DNA haplogroup. From 2002 to 2008, it was known as Haplogroup K2. It should not be confused with the mitochondrial DNA haplogroup T, of the same name....

 
Q
Haplogroup Q (Y-DNA)
In human genetics, Haplogroup Q is a Y-chromosome DNA haplogroup.-Origins:Haplogroup Q is one of the two branches of haplogroup P . Haplogroup Q is believed to have arisen in Central Asia approximately 15,000 to 20,000 years ago. It has had multiple origins proposed...

North Italy 6% 2.5% 2.5% 3.5% 55% 2.5% 11.5% 0.5% 11% 4.5% 0%
Central Italy
Central Italy
Central Italy is one of the five official statistical regions of Italy used by the National Institute of Statistics , a first level NUTS region and a European Parliament constituency...

3% 2% 5% 3.5% 43% 8.5% 19.5% 2% 10% 3.5% 0%
South Italy
South Italy
South Italy is one of the five official statistical regions of Italy used by the National Institute of Statistics , a first level NUTS region and a European Parliament constituency. South Italy encompasses six of the country's 20 regions:*Abruzzo...

2.5% 2.5% 2.5% 2.5% 29% 8.5% 23.5% 5% 18% 5.5% 0%
Sicily
Sicily
Sicily is a region of Italy, and is the largest island in the Mediterranean Sea. Along with the surrounding minor islands, it constitutes an autonomous region of Italy, the Regione Autonoma Siciliana Sicily has a rich and unique culture, especially with regard to the arts, music, literature,...

3% 1% 1% 4.5% 30% 5.5% 26.5% 4% 17.5% 6% 1%
Sardinia
Sardinia
Sardinia is the second-largest island in the Mediterranean Sea . It is an autonomous region of Italy, and the nearest land masses are the French island of Corsica, the Italian Peninsula, Sicily, Tunisia and the Spanish Balearic Islands.The name Sardinia is from the pre-Roman noun *sard[],...

0% 37% 0% 0% 22% 15% 10% 2.5% 10% 1.5% 2%


A Universita' Cattolica del Sacro Cuore study found that while Greek colonization left little significant genetic contribution, data analysis sampling 12 sites in the Italian peninsula supported a male demic diffusion model and Neolithic admixture with Mesolithic inhabitants. The results supported a distribution of genetic variation alond a north South-Axis and supported demic diffusion. South Italian samples clustered with South east and south central European samples, and Northern groups with West Europe.

A 2004 study by Semino et al reinforced this study, and showed that Italians in North-central regions (like Tuscany and Emilia-Romagna) had a higher concentration of J2 than their Southern counterparts. North-central had 26.9% J2, whereas Calabria (a far Southern region) had 20.0%, Sardinia had 9.7% and Sicily had 16.7%. This could be because of the ancient Etruscans, who some think originated in the Near East.

Migration High Medieval Y-DNA

Migrations that occurred on Italian soil from the fall of the Roman Empire until 1000 AD have probably not significantly altered the gene pool of the Italian people. Despite the Goths and Lombards bringing much new blood to the Italians, it is estimated that the I1 haplogroup
Haplogroup I1 (Y-DNA)
In human genetics, Haplogroup I1 is a Y chromosome haplogroup occurring at greatest frequency in Scandinavia, associated with the mutations identified as M253, M307, P30, and P40. These are known as single nucleotide polymorphisms . It is a subclade of Haplogroup I. Before a reclassification in...

 associated with the Germanic peoples
Germanic peoples
The Germanic peoples are an Indo-European ethno-linguistic group of Northern European origin, identified by their use of the Indo-European Germanic languages which diversified out of Proto-Germanic during the Pre-Roman Iron Age.Originating about 1800 BCE from the Corded Ware Culture on the North...

 is present among Italians in the north in the order of 2-3% and from 1 to 1.5% among Italians in the south .
Other haplotypes that could have been penetrated in Italy together with the German invaders are haplogroup R1a which belongs to 2.5% of Italians and some subclades of the R1b Haplogroup (in particular the subclade R1b1c9 that owns 3.5% of Italians and is particularly widespread among the peoples of north-west Italy) but because these haplogroups are just mentioned fairly commonly in other European ethnic groups it is difficult to establish whether they have been really brought into Italy by Germanic peoples or by other peoples (eg Slavs). The Germanic or Nordic heritage among the Italians then wanders around 5-10%.

In Sicily
Sicily
Sicily is a region of Italy, and is the largest island in the Mediterranean Sea. Along with the surrounding minor islands, it constitutes an autonomous region of Italy, the Regione Autonoma Siciliana Sicily has a rich and unique culture, especially with regard to the arts, music, literature,...

 further migrations from the Vandals, Normans and Saracens
History of Islam in southern Italy
The history of Islam in southern Italy begins with the Islamic conquest and subsequent rule of Sicily and Malta, a process that started in the 9th century. Islamic rule over Sicily was effective from 902, and the complete rule of the island lasted from 965 until 1061...

 have only slightly affected the ethnic composition of the Sicilian people. The Arab civilization flourished undisturbed for nearly a century and the impact of Arab-Berber colonization occurred in a more intense way. Ultimately, the North African
Maghreb
The Maghreb is the region of Northwest Africa, west of Egypt. It includes five countries: Morocco, Algeria, Tunisia, Libya, and Mauritania and the disputed territory of Western Sahara...

 male contribution to Sicily was estimated between 6 and 7.5% .This period was followed by centuries of Norman rule and migration into Sicily from France (Franks, Normans) and Northern and Southern Italy (Lombards, Ligurians, and Latins) that would transform Sicily into "the jewel of the Mediterranean.

Genetic composition of Italians mtDNA

Percentages of mtDNA haplogroups (female) among Italians:
H V J T U K I W X2 others
% 33,5% 4,5% 7,5% 12% 12,5% 7% 2% 2,5% 2% 16,5%


In Italy as elsewhere in Europe the most common haplogroup is haplogroup H
Haplogroup H (mtDNA)
In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA haplogroup that likely originated in Southwest Asia 25,000-30,000 YBP.-Origin:...

 originated probably about 20,000 years ago in southern Europe or in the Near East. Follow the haplogroup V originated in Iberia 15,000 years ago, haplogroup J
Haplogroup J (mtDNA)
In human mitochondrial genetics, Haplogroup J is a human mitochondrial DNA haplogroup.Haplogroup J derives from the haplogroup JT, which also gave rise to Haplogroup T. In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Jasmine...

 originated in the Near East or the Caucasus, W (north-east 25.000 years ago), T (Mesopotamia 17.000 years ago), U (Western Asia 60.000 years ago), I (30,000 years ago probably in Europe), K (16.000 years ago in the Near East), X2 (over 30,000 years ago in north-east Europe) . African Haplogroup L
Macro-haplogroup L (mtDNA)
In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans....

 lineages are relatively infrequent (1% or less) throughout Italy with the exception of Latium
Latium
Lazio is one of the 20 administrative regions of Italy, situated in the central peninsular section of the country. With about 5.7 million residents and a GDP of more than 170 billion euros, Lazio is the third most populated and the second richest region of Italy...

, Volterra
Volterra
Volterra, known to the ancient Etruscans as Velathri, to the Romans as Volaterrae, is a town and comune in the Tuscany region of Italy.-History:...

, Basilicata
Basilicata
Basilicata , also known as Lucania, is a region in the south of Italy, bordering on Campania to the west, Apulia to the north and east, and Calabria to the south, having one short southwestern coastline on the Tyrrhenian Sea between Campania in the northwest and Calabria in the southwest, and a...

 and Sicily
Sicily
Sicily is a region of Italy, and is the largest island in the Mediterranean Sea. Along with the surrounding minor islands, it constitutes an autonomous region of Italy, the Regione Autonoma Siciliana Sicily has a rich and unique culture, especially with regard to the arts, music, literature,...

 where frequencies between 2 and 3% have been found.

The contribution of Italians in rebuilding Europe's mtDNA

Recent studies have shown that Italy has played an important role in the recovery of 'Western Europe” at the end of the Last glacial period. The study focused mitochondrial U5b3 haplogroup discovered that this female lineage had in fact originated in Italy and that then expanded from the Peninsula around 10,000 years ago towards Provence and the Balkans. In Provence
Provence
Provence ; Provençal: Provença in classical norm or Prouvènço in Mistralian norm) is a region of south eastern France on the Mediterranean adjacent to Italy. It is part of the administrative région of Provence-Alpes-Côte d'Azur...

, probably between 9000 and 7000 years, it gave rise to the haplogroup subclade U5b3a1. This subclade U5b3a1 later came from Provence to Sardinia by obsidian merchants, as it is estimated that 80% of obsidian found in France comes from Monte Arci in Sardinia reflecting the close relations that were at the time of these two regions. Still about 4% of the female population in Sardinia belongs to this haplotype .
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