Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citize

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Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration

Abstract

Background: The Y-chromosome haplogroup Q has three major branches: Q1, Q2, and Q3. Q1 is found in both Asia
and the Americas where it accounts for about 90% of indigenous Native American Y-chromosomes; Q2 is found in
North and Central Asia; but little is known about the third branch, Q3, also named Q1b-L275. Here, we combined the
efforts of population geneticists and genetic genealogists to use the potential of full Y-chromosome sequencing for
reconstructing haplogroup Q3 phylogeography and suggest possible linkages to events in population history.
Results: We analyzed 47 fully sequenced Y-chromosomes and reconstructed the haplogroup Q3 phylogenetic tree in
detail. Haplogroup Q3-L275, derived from the oldest known split within Eurasian/American haplogroup Q, most likely
occurred in West or Central Asia in the Upper Paleolithic period. During the Mesolithic and Neolithic epochs, Q3 remained a minor component of the West Asian Y-chromosome pool and gave rise to five branches (Q3a to Q3e), which spread across West, Central and parts of South Asia. Around 3–4 millennia ago (Bronze Age), the Q3a branch underwent a rapid expansion, splitting into seven branches, some of which entered Europe. One of these branches, Q3a1, was acquired by a population ancestral to Ashkenazi Jews and grew within this population during the 1st millennium AD, reaching up to 5% in present day Ashkenazi.
Conclusions: This study dataset was generated by a massive Y-chromosome genotyping effort in the genetic genealogy
community, and phylogeographic patterns were revealed by a collaboration of population geneticists and genetic
genealogists. This positive experience of collaboration between academic and citizen science provides a model for further
joint projects. Merging data and skills of academic and citizen science promises to combine, respectively, quality and
quantity, generalization and specialization, and achieve a well-balanced and careful interpretation of the paternal-side
history of human populations.

http://www.readcube.com/articles/10.1186/s12862-016-0870-2?author_access_token=z1IVzbQGb48yCofbQLfTqG_BpE1tBhCbnbw3BuzI2RP2hEHE03xmvmfuihneJPEJSIV3ugtNxBK_vwosD3wMBTmxPDPsBNep81pJxHy53i49BgB759zxkG77Oj5oO4Dg618R14hpsbXf_cyYrM7s5w%3D%3D

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В списке авторов - тьма знакомых фамилий с Молгена и не только

[Nimissin]

Авторам - мои поздравления!
Значение статьи не только в том, что проведено глубокое исследование редкой гаплогруппы Q-L275, до которой профессиональные генетики, возможно, никогда бы не добрались. Значение работы в том, что в ней показан громадный потенциал совестной работы профессиональных ученых и независимых ("гражданских") исследователей.

[Arame]

Спасибо гражданам.

[Шад]

Давидски прокомментровал:

http://eurogenes.blogspot.ru/2017/02/phylogeography-of-y-haplogroup-q3-l275.html

[Аббат Бузони]

Владимир, можно пару слов по сабжу комментариев?

http://xn--c1acc6aafa1c.xn--p1ai/?page_id=21890&cpage=1#comment-4888

[Шад]

Ответил на Генофонде, но комментарий пока не опубликовали.

Дублирую:

видимо речь идет об этом абзаце

At least three branches of academic science – population genetics, forensic genetics and evolutionary genetics – provide extensive studies of Y-chromosomal variation in human populations. In the sphere of citizen science, Y-chromosomal variation is covered by the field called genetic genealogy, though it attracts attention of other citizen researchers as well. Genetic genealogical communities include many enthusiasts concentrating on one haplogroup each, while population geneticists (and other academic researchers) are normally involved in multiple projects and simultaneously analyze many haplogroups. So, genetic genealogists may offer specialization (elucidating phylogeographic details), while population geneticists might contribute generalization (extracting the principal patterns, and placing them into the overall picture of global genetic variation in humans).

Но тут идет просто констатация факта, что среди представителей genetic genealogical communities много энтузиастов, концентрирующихся на одной гаплогруппе. Именно акцентирование этого тезиса соответствовало предмету исследования статьи — одной гаплогруппе Q. Что не исключает того, что среди представителей этого сообщества многие другие или же эти многие изучают вопросы семейной генеалогии («фамильные проекты») или конкретной популяции. Целью этого абзаца было не некое противопоставление компетенций одних и других, а напротив подчеркивание взаимообогащающего сотрудничества "любителей" и науки.

Просто если представитель citizen science глубоко погружается в предмет, то он уже становится популяционным генетиком:) Тут грань достаточно зыбкая.


UPD

Вот еще один абзац из этого же раздела Lessons from collaboration of academic and citizen researchers:

Finally, geneticists and genealogists often differ in their approach to interpreting the data. Geneticists typically consider the entire gene pool, consisting of many haplogroups, and draw conclusions based on their relative frequencies in different populations. Even in studies dedicated to a single haplogroup, conclusions about population history take into account the data from other components of the gene pool. Genealogists, on the contrary, focus on the history of a single lineage. This is fully justified for understanding the genealogy of an individual, as he has a single paternal lineage. But there is no ‘genealogy of populations’: a population does not have a single root (linear history), marked by a specific haplogroup. Instead, a population typically consists of individuals with different origins and different haplogroups. As a result, the “one haplogroup history – one population/ethnic history” hypothesis would be a dangerous oversimplification, and in addition inappropriately expands the history of an ethnic group to a time depth far exceeding the formation the group itself (its identity and language). We believe that haplogroups indeed mark features of population history, but caution should be observed when combining these features into an entire picture. Different approaches should be used for reconstructing individual (one lineage) and population (multi-lineage) paternal histories, and collaborative studies of geneticists and genealogists can help to avoid one-sided interpretations.

Тут тоже нет "камня в огород генеалогии" (действительно при генеалогических исследованиях мы рассматриваем совокупность линиджей, родовых линий), а призыв не отождествлять одну популяцию с одной гаплогруппой и не упрощать (“one haplogroup history – one population/ethnic history”). Опять же гаплогруппа Q1b представленная в целом ряде популяций Евразии хорошо демонстрирует правомерность этого тезиса.

[Аббат Бузони]

В общем я увидел несколько иное, что собственно и процитировал. Более мне добавить нечего.))