Saturday, 16 March 2024

MIGRATION OF MY MATERNAL ANCESTORS FROM AFRICA TO GOA


 

MIGRATION OF MY MATERNAL ANCESTORS FROM AFRICA TO GOA

Only women transmit mitochondrial DNA to their children; men inherit it from

their mothers but cannot transmit it. Since women do not have a Y DNA

chromosome, migration is tracked by following the mutations in

mitochondrial DNA (mtDNA). There are 3 regions that are investigated for this

purpose: Hypervariable regions HVR1 and HVR2 and a Coding region. The

HVR regions have been found to mutate every 400 years or so and the

Coding region every 1600 years.

My mother was a Cordeiro, her mother a Correia Afonso whose mother

was Claudina Pacheco and so on. It is this maternal lineage that I discuss

here.

My mitochondrial DNA (mtDNA) haplogroup is U5a1a2a according to a

complete Family Tree DNA analysis and very recently an analysis by Y Full

placed it in the sub-clade U5a1a2a-5a. Unfortunately, unlike Y DNA, not

enough people have tested their mtDNA in Asia and therefore tracking

migration solely through haplogroups as can be done with the paternal

lineage is not possible at this time. Family Tree DNA has tracked the

migration starting with the first woman code named EVE in Africa till the

appearance of the first woman with mtDNA haplogroup U in Ukraine (See

map).

The mutations that define present day U5 are C16192T, C16270T, T3197C,

G9477A, and T13617C. I compared the mutations of my mtDNA with all the

U5a1a2a in the FTDNA database as well as other available databases and

published data but did not find a match; we all share the defining mutations

of that haplogroup but the other mutations differ considerably. What

distinguishes my mtDNA is an extra mutation A16309G that does not appear

in any of the U5a1a2a that I had studied.

And then I came across a paper by Professor Morten Erik Allentoft et al in

the journal Nature reporting on findings of project RISE in which 101

ancient bronze age humans across Eurasia were analysed. I was delighted to

read that a sample code named RISE 496 belonging to an adult female

exhumed from Arban 1 cemetery in Polyakov, Republic of Khakassia,

Russia, not only belonged to the same mtDNA haplogroup as I do but also

exhibited the extra mutation A165309G that I had not found anywhere else.

As Prof. Allentoft pointed out to me, RISE 496 may not have been a direct

ancestor because thousands of women with my extra mutation may have

existed but my ancestor definitely belonged to the same clan/family as RISE

496. In any event, there is no doubt that my maternal ancestors inhabitedPolyakov, Russia, 3000-1000 BCE i.e. three thousand to five thousand years

ago.

RISE 496 belonged to the bronze age KARASUK culture, preceded by

Andronovo, Sinthasta, Abashevo and other cultures derived from the

Yamnaya and responsible for spreading the Indo-European languages. Thus,

by following the evolution of these cultures, it is possible to track the

migration of my maternal ancestor to Polyakov.

We know from a major study published by Narasimhan et al, led primarily by

Harvard Professor David Reich that the Sinthasta and related populations

from the Steppes entered India from the North and can conclude that my

maternal ancestors came with them and finally settled down in Salcete, Goa.

Unfortunately, we do not have enough endpoints at the present time to be

more precise regarding the geographic locations.

The journey from Africa to Goa passing through the Middle East, Ukraine, the

Russian Steppes, Mongolia, Northern India and finally Goa must have been

an arduous, a dangerous and perilous one, specially for a woman to survive.

I look back with awe, respect and pride at this courageous and spectacular

achievement of my maternal ancestors.

Monday, 5 February 2024

Migration map of my PATRILINEAL ancestors from Africa to Goa

Migration map of my ancestors from Africa to Goa


Family Tree DNA has introduced a feature called "Globetrekker" that maps the migration route of ancestors based on the Y DNA test results starting with the first homo sapiens code-named ADAM right up to my last known ancestor Ramu Prabhu born around 1600 and 1601 in Calvim, Aldona, Goa. I was able to discover this latter information from ancient documents (History of Goa in Goykannadi Script by Gajana Ghantkar). 

Thanks to Y DNA analyses, it was possible to determine that my ancestors were a part of the Indus Valley Civilisation. After the IVC collapsed, in their quest for survival, they migrated towards Uttar Pradesh and Madhya Pradesh and finally arrived in Goa as permanent settlers around 700 - 600 BCE, setting down roots most probably in Sasahtti (Salcete). 

Between 1400 and 1150 CE, during the rule of the Kadambas in Goa, agricultural land (hal or plough used as a measure of agricultural land) was donated as a gift (dana) to an adhistani or enlightened Brahmin Kamti (agriculturist or farmer, later evolving to Kamat) to start the first vangad (family clan) of a new village that was given the name of Haldana, that over time evolved to Aldona. My ancestors were invited to contribute to this new settlement by establishing the fourth vangad as Prabhu due to their engineering expertise in building sluice gates and bandhs to recover land for rice fields. The Prabhu clan settled in Kaluve (present day Calvim) from where they eventually migrated to Quitula, most probably due to pestilence that affected many of Goa’s islands including Calvim at different times.

This extraordinary and impressive journey from Africa to Goa that lasted thousands of years fills me with pride to be a descendant of Ramu Prabhu. 


Monday, 1 January 2024

GENETICS BRINGS HOPE AND CHEER FOR 2024

2023 has been a tragic year with murderous conflicts between Russia and Ukraine as well as Israel and Hamas spreading to some other neighbouring regions too. We have witnessed severe droughts and floods caused by climatic changes brought about by humanity’s excessive consumption of fossil fuel and other natural calamities such as killer earthquakes in Turkey and elsewhere. Migration of peoples leading to tragic drownings and refugee crises in the USA and Europe were another source of tragedies. People all over the world have lost their buying power due to high inflation and dramatic price increases leading to an increased poverty level.


Amidst all this depressingly devastating news, the one ray of hope, sunshine and joy for humanity has been provided by science and more specifically genetics.  For the first time ever, in 2023, a revolutionary therapy has been approved by the authorities in USA and Europe that makes a dream come true: the application of CRISPR/Cas9 gene splicing technology to cure the debilitating inherited diseases Sickle Cell and Beta Thalassemia.


Our red blood cells are essential to transport oxygen to all the organs and tissues of the body. Sickle cell disease (SCD) is an inherited blood disorder that affects the red blood cells, which are essential for carrying oxygen to all organs and tissues of the body. A mutation in both copies of the haemoglobin beta (HBB) gene on chromosome 11 inherited from carrier parents i.e. the parents carry a mutation in only one copy, makes the red blood cells rigid and hampers the transport of oxygen. The disease causes anemia, severe pain, organ failure and premature death.

Beta Thalassemia caused by a similar mutation causes anemia, jaundice, fatigue and shortness of breath.


As a first therapy of its kind, CASGEVY™ (exagamglogene autotemcel [exa-cel]) launched by Vertex Pharmaceuticals Incorporated and CRISPR Therapeutics, is made specifically for each patient, using the patient’s own edited blood stem cells, and increases the production of a special type of hemoglobin called hemoglobin F (fetal hemoglobin or HbF) that is present at the fetal stage but disappears after birth. Thus, it does not directly undo the mutation on chromosome 11 but overcomes the problem via hemoglobin F synthesised by the patients own stem cells modified via CRISPR/Cas9 for this purpose.

The patient’s blood is taken in hospital, the stem cells are isolated and edited using CRISPR/Cas9 in a laboratory and subsequently administered to the patient during a one-time infusion.


There are many other CRISPR/Cas9 - based therapies in the pipeline designed to cure different types of cancers and other mutation-induced diseases. We can be hopeful that genetics will bring more good news and cheer in 2024. 


A very happy and healthy NEW YEAR 2024 to all the readers of my blog.

Thursday, 14 December 2023

Early diagnosis of cancer using a simple blood sample combined with A.I.

It is well established that the earlier cancer is detected, the higher the chances of successfully treating a patient. A methodology using a simple blood sample combined with Artificial Intelligence to achieve this is now proven but will need to be tested in clinical trials and will probably take some years till it can be widely introduced as a diagnostic tool. 

A team headed by G. V. Shivashankar, (Mechano-Genomic Group, Division of Biology and Chemistry, Paul-Scherrer Institute, Villigen, Switzerland / Department of Health Sciences and Technology, ETH Zurich, Zurich, Switzerland) have shown that using a simple blood sample combined with Artificial Intelligence can detect cancerous tumours as well as distinguish between three tumour groups with a combined precision of about 85%: 

 "....chromatin imaging of PBMCs combined with machine learning methods provides such robust and predictive chromatin biomarkers. We show that such chromatin biomarkers enable the classification of 10 healthy and 10 pan-tumor patients. Furthermore, we extended our pipeline to assess the tumor types and states of 30 tumor patients undergoing (proton) radiation therapy. We show that our pipeline can thereby accurately distinguish between three tumor groups with up to 89% accuracy and enables the monitoring of the treatment effects. Collectively, we show the potential of chromatin biomarkers for cancer diagnostics and therapy evaluation." 

https://www.nature.com/articles/s41698-023-00484-8

Sunday, 19 November 2023

Wednesday, 13 September 2023

LIFE ON ANOTHER PLANET: Just a matter of time


The presence of water, and a chemical only produced on earth by life has been identified by NASA’s James Webb Space Telescope in the exoplanet K2-18 b: 

"These initial Webb observations also provided a possible detection of a molecule called dimethyl sulfide (DMS). On Earth, this is only produced by life. The bulk of the DMS in Earth’s atmosphere is emitted from phytoplankton in marine environments". 

Access to the article with the link below: 

https://www.nasa.gov/goddard/2023/webb-discovers-methane-carbon-dioxide-in-atmosphere-of-k2-18b

The discovery of life in an another planet is not a matter of "if" but "when". It is just a matter of time.