Francesca Crobu
Researcher
Area of interest:
Microbiome, genetics of complex disease, genetics of thalassemia.
Most significant publications:
2026
Ferrando, Maria Laura; Busonero, Fabio; Crobu, Francesca; Sanna, Serena
Äging in women - The microbiome perspective" Journal Article
In: Ägeing Res. Rev.", 113 (102950), pp. 102950, 2026.
@article{Ferrando2026-fp,
title = {Äging in women - The microbiome perspective"},
author = {Maria Laura Ferrando and Fabio Busonero and Francesca Crobu and Serena Sanna},
year = {2026},
date = {2026-01-01},
journal = {Ägeing Res. Rev."},
volume = {113},
number = {102950},
pages = {102950},
publisher = {Elsevier BV},
abstract = {Menopause is a hallmark of women's aging and is frequently
portrayed as a medical issue. It also encompasses social and
biological aspects often neglected and not well-understood,
leaving women with insufficient support and attention. With the
decline in estrogen levels, starting years before menopause is
fully established, women experience various physical symptoms,
and the risk of many age-related diseases increases sharply soon
after these hormonal changes occur. Notably, these hormonal
shifts also significantly impact the vaginal and gut
microbiomes, contributing to dysbiosis and influencing the onset
and progression of several diseases. Here, we examined the
complex and dynamic relationship among aging, menopause, and
microbiome changes with a particular focus on the vaginal and
gut ecosystems. Emerging research highlights diet as a potential
modulator for maintaining microbiome health during menopause. A
deeper understanding of microbiome changes across life stages
suggests the potential for microbiome-targeted strategies to
support well-aging in women.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Menopause is a hallmark of women's aging and is frequently
portrayed as a medical issue. It also encompasses social and
biological aspects often neglected and not well-understood,
leaving women with insufficient support and attention. With the
decline in estrogen levels, starting years before menopause is
fully established, women experience various physical symptoms,
and the risk of many age-related diseases increases sharply soon
after these hormonal changes occur. Notably, these hormonal
shifts also significantly impact the vaginal and gut
microbiomes, contributing to dysbiosis and influencing the onset
and progression of several diseases. Here, we examined the
complex and dynamic relationship among aging, menopause, and
microbiome changes with a particular focus on the vaginal and
gut ecosystems. Emerging research highlights diet as a potential
modulator for maintaining microbiome health during menopause. A
deeper understanding of microbiome changes across life stages
suggests the potential for microbiome-targeted strategies to
support well-aging in women.
portrayed as a medical issue. It also encompasses social and
biological aspects often neglected and not well-understood,
leaving women with insufficient support and attention. With the
decline in estrogen levels, starting years before menopause is
fully established, women experience various physical symptoms,
and the risk of many age-related diseases increases sharply soon
after these hormonal changes occur. Notably, these hormonal
shifts also significantly impact the vaginal and gut
microbiomes, contributing to dysbiosis and influencing the onset
and progression of several diseases. Here, we examined the
complex and dynamic relationship among aging, menopause, and
microbiome changes with a particular focus on the vaginal and
gut ecosystems. Emerging research highlights diet as a potential
modulator for maintaining microbiome health during menopause. A
deeper understanding of microbiome changes across life stages
suggests the potential for microbiome-targeted strategies to
support well-aging in women.
2025
Vinerbi, E; Chillotti, F; Maschio, A; Lenarduzzi, S; Camarda, S; Crobu, F; Zhernakova, D V; Faro, V Lo; Vriz, G Beltrame; Incollu, S; Spreckels, J; Kuzub, N; Kadric, A; Gacesa, R; Zhernakova, A; Seta, F De; Mazz`a, D; Busonero, F; Ferrando, M L; Girotto, G; Sanna, S
Lactobacillus iners dominates the vaginal microbiota of healthy Italian women of reproductive age Journal Article
In: mSystems, (e00983-25), pp. e0098325, 2025.
@article{Vinerbi2025-yc,
title = {Lactobacillus iners dominates the vaginal microbiota of healthy
Italian women of reproductive age},
author = {E Vinerbi and F Chillotti and A Maschio and S Lenarduzzi and S Camarda and F Crobu and D V Zhernakova and V Lo Faro and G Beltrame Vriz and S Incollu and J Spreckels and N Kuzub and A Kadric and R Gacesa and A Zhernakova and F De Seta and D Mazz`a and F Busonero and M L Ferrando and G Girotto and S Sanna},
year = {2025},
date = {2025-11-01},
journal = {mSystems},
number = {e00983-25},
pages = {e0098325},
publisher = {Ämerican Society for Microbiology"},
abstract = {Large sex hormonal fluctuations are thought to influence vaginal
microbiota, but little is known about the impact of small,
physiological variations. Here, we tracked changes in vaginal
microbiota during four key menstrual cycle phases in 61 healthy,
naturally menstruating Italian women from the Women4Health
cohort. The microbiota, characterized using a high-depth 16S
rRNA amplicon sequencing approach covering four hypervariable
regions, was primarily composed of Lactobacillus species, with
Lactobacillus iners being the most abundant (average relative
abundance: 40%) and the most prevalent (prevalence: 98%).
Individual microbiota were generally stable, but beta diversity was higher during the follicular phase (P = 0.007). Only 11
women exhibited compositional shifts, mostly occurring between
the follicular and ovulatory phases. Finally, using linear mixed
models, we assessed the association between taxa relative
abundance and five sex hormones along the menstrual cycle. Among
these, 17-beta estradiol showed the largest number of
significant associations, linking its increase to a decrease in
the relative abundance of taxa that are more common after
menopause. Our study highlights specific features of the Italian
population and points to the resilience of the vaginal
microbiota to physiological hormonal changes. Noteworthy, the
observed high abundance of L. iners contrasts with previous
studies in European populations, challenging its proposed
pathogenic role and suggesting distinct microbiota profiles
within Europe.IMPORTANCEThe vaginal microbiota plays an
important role in women's health, yet we know little about how
it responds to normal hormonal fluctuations. In this study, we
followed 61 healthy Italian women over a natural menstrual cycle
to explore microbiota changes across different hormonal phases.
We found that Lactobacillus iners was the most common species,
unlike previous findings in Northern Europe, suggesting
population-specific patterns. The common hypothesis that L.
iners is invariably linked with poor health is called into
question by our findings. They emphasize the importance of
considering population context and hormonal status when
assessing vaginal health. The vaginal microbiota was generally
stable, with only a few changes observed between the follicular
and ovulatory phases. When evaluating the association between
five sex hormones and taxa abundances, we found that 17-beta
estradiol levels had the largest number of significant
associations. These highlight an association between increased
levels of 17-beta estradiol and increased relative abundance of
rare bacterial taxa rather than dominant species like
Lactobacillus. Our findings help define what constitutes a
``healthy microbiota'' in generally healthy Italian women of
reproductive age and may inform future strategies for diagnosing
or preventing women's health conditions.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Large sex hormonal fluctuations are thought to influence vaginal
microbiota, but little is known about the impact of small,
physiological variations. Here, we tracked changes in vaginal
microbiota during four key menstrual cycle phases in 61 healthy,
naturally menstruating Italian women from the Women4Health
cohort. The microbiota, characterized using a high-depth 16S
rRNA amplicon sequencing approach covering four hypervariable
regions, was primarily composed of Lactobacillus species, with
Lactobacillus iners being the most abundant (average relative
abundance: 40%) and the most prevalent (prevalence: 98%).
Individual microbiota were generally stable, but beta diversity was higher during the follicular phase (P = 0.007). Only 11
women exhibited compositional shifts, mostly occurring between
the follicular and ovulatory phases. Finally, using linear mixed
models, we assessed the association between taxa relative
abundance and five sex hormones along the menstrual cycle. Among
these, 17-beta estradiol showed the largest number of
significant associations, linking its increase to a decrease in
the relative abundance of taxa that are more common after
menopause. Our study highlights specific features of the Italian
population and points to the resilience of the vaginal
microbiota to physiological hormonal changes. Noteworthy, the
observed high abundance of L. iners contrasts with previous
studies in European populations, challenging its proposed
pathogenic role and suggesting distinct microbiota profiles
within Europe.IMPORTANCEThe vaginal microbiota plays an
important role in women's health, yet we know little about how
it responds to normal hormonal fluctuations. In this study, we
followed 61 healthy Italian women over a natural menstrual cycle
to explore microbiota changes across different hormonal phases.
We found that Lactobacillus iners was the most common species,
unlike previous findings in Northern Europe, suggesting
population-specific patterns. The common hypothesis that L.
iners is invariably linked with poor health is called into
question by our findings. They emphasize the importance of
considering population context and hormonal status when
assessing vaginal health. The vaginal microbiota was generally
stable, with only a few changes observed between the follicular
and ovulatory phases. When evaluating the association between
five sex hormones and taxa abundances, we found that 17-beta
estradiol levels had the largest number of significant
associations. These highlight an association between increased
levels of 17-beta estradiol and increased relative abundance of
rare bacterial taxa rather than dominant species like
Lactobacillus. Our findings help define what constitutes a
``healthy microbiota'' in generally healthy Italian women of
reproductive age and may inform future strategies for diagnosing
or preventing women's health conditions.
microbiota, but little is known about the impact of small,
physiological variations. Here, we tracked changes in vaginal
microbiota during four key menstrual cycle phases in 61 healthy,
naturally menstruating Italian women from the Women4Health
cohort. The microbiota, characterized using a high-depth 16S
rRNA amplicon sequencing approach covering four hypervariable
regions, was primarily composed of Lactobacillus species, with
Lactobacillus iners being the most abundant (average relative
abundance: 40%) and the most prevalent (prevalence: 98%).
Individual microbiota were generally stable, but beta diversity was higher during the follicular phase (P = 0.007). Only 11
women exhibited compositional shifts, mostly occurring between
the follicular and ovulatory phases. Finally, using linear mixed
models, we assessed the association between taxa relative
abundance and five sex hormones along the menstrual cycle. Among
these, 17-beta estradiol showed the largest number of
significant associations, linking its increase to a decrease in
the relative abundance of taxa that are more common after
menopause. Our study highlights specific features of the Italian
population and points to the resilience of the vaginal
microbiota to physiological hormonal changes. Noteworthy, the
observed high abundance of L. iners contrasts with previous
studies in European populations, challenging its proposed
pathogenic role and suggesting distinct microbiota profiles
within Europe.IMPORTANCEThe vaginal microbiota plays an
important role in women's health, yet we know little about how
it responds to normal hormonal fluctuations. In this study, we
followed 61 healthy Italian women over a natural menstrual cycle
to explore microbiota changes across different hormonal phases.
We found that Lactobacillus iners was the most common species,
unlike previous findings in Northern Europe, suggesting
population-specific patterns. The common hypothesis that L.
iners is invariably linked with poor health is called into
question by our findings. They emphasize the importance of
considering population context and hormonal status when
assessing vaginal health. The vaginal microbiota was generally
stable, with only a few changes observed between the follicular
and ovulatory phases. When evaluating the association between
five sex hormones and taxa abundances, we found that 17-beta
estradiol levels had the largest number of significant
associations. These highlight an association between increased
levels of 17-beta estradiol and increased relative abundance of
rare bacterial taxa rather than dominant species like
Lactobacillus. Our findings help define what constitutes a
``healthy microbiota'' in generally healthy Italian women of
reproductive age and may inform future strategies for diagnosing
or preventing women's health conditions.
2024
Busonero, Fabio; Lenarduzzi, Stefania; Crobu, Francesca; Gentile, Roberta Marie; Carta, Andrea; Cracco, Francesco; Maschio, Andrea; Camarda, Silvia; Marongiu, Michele; Zanetti, Daniela; Conversano, Claudio; Lorenzo, Giovanni Di; Mazz`a, Daniela; Seta, Francesco De; Girotto, Giorgia; Sanna, Serena
The Women4Health cohort: a unique cohort to study women-specific mechanisms of cardio-metabolic regulation Journal Article
In: Eur. Heart J. Open, 4 (2), pp. öeae012", 2024.
@article{Busonero2024-et,
title = {The Women4Health cohort: a unique cohort to study
women-specific mechanisms of cardio-metabolic regulation},
author = {Fabio Busonero and Stefania Lenarduzzi and Francesca Crobu and Roberta Marie Gentile and Andrea Carta and Francesco Cracco and Andrea Maschio and Silvia Camarda and Michele Marongiu and Daniela Zanetti and Claudio Conversano and Giovanni Di Lorenzo and Daniela Mazz`a and Francesco De Seta and Giorgia Girotto and Serena Sanna},
year = {2024},
date = {2024-03-01},
journal = {Eur. Heart J. Open},
volume = {4},
number = {2},
pages = {öeae012"},
publisher = {Öxford University Press (OUP)"},
abstract = {Äims: Epidemiological research has shown relevant differences
between sexes in clinical manifestations, severity, and
progression of cardiovascular and metabolic disorders. To date,
the mechanisms underlying these differences remain unknown.
Given the rising incidence of such diseases, gender-specific
research on established and emerging risk factors, such as
dysfunction of glycaemic and/or lipid metabolism, of sex
hormones and of gut microbiome, is of paramount importance. The
relationships between sex hormones, gut microbiome, and host
glycaemic and/or lipid metabolism are largely unknown even in
the homoeostasis status. Yet this knowledge gap would be pivotal
to pinpoint to key mechanisms that are likely to be disrupted in
disease context. Methods and results: Here we present the
Women4Health (W4H) cohort, a unique cohort comprising up to 300
healthy women followed up during a natural menstrual cycle, set
up with the primary goal to investigate the combined role of sex
hormones and gut microbiota variations in regulating host lipid
and glucose metabolism during homoeostasis, using a multi-omics
strategy. Additionally, the W4H cohort will take into
consideration another ecosystem that is unique to women, the
vaginal microbiome, investigating its interaction with gut
microbiome and exploring-for the first time-its role in
cardiometabolic disorders. Conclusion: The W4H cohort study lays
a foundation for improving current knowledge of women-specific
mechanisms in cardiometabolic regulation. It aspires to
transform insights on host-microbiota interactions into
prevention and therapeutic approaches for personalized health
care."},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Äims: Epidemiological research has shown relevant differences
between sexes in clinical manifestations, severity, and
progression of cardiovascular and metabolic disorders. To date,
the mechanisms underlying these differences remain unknown.
Given the rising incidence of such diseases, gender-specific
research on established and emerging risk factors, such as
dysfunction of glycaemic and/or lipid metabolism, of sex
hormones and of gut microbiome, is of paramount importance. The
relationships between sex hormones, gut microbiome, and host
glycaemic and/or lipid metabolism are largely unknown even in
the homoeostasis status. Yet this knowledge gap would be pivotal
to pinpoint to key mechanisms that are likely to be disrupted in
disease context. Methods and results: Here we present the
Women4Health (W4H) cohort, a unique cohort comprising up to 300
healthy women followed up during a natural menstrual cycle, set
up with the primary goal to investigate the combined role of sex
hormones and gut microbiota variations in regulating host lipid
and glucose metabolism during homoeostasis, using a multi-omics
strategy. Additionally, the W4H cohort will take into
consideration another ecosystem that is unique to women, the
vaginal microbiome, investigating its interaction with gut
microbiome and exploring-for the first time-its role in
cardiometabolic disorders. Conclusion: The W4H cohort study lays
a foundation for improving current knowledge of women-specific
mechanisms in cardiometabolic regulation. It aspires to
transform insights on host-microbiota interactions into
prevention and therapeutic approaches for personalized health
care."
between sexes in clinical manifestations, severity, and
progression of cardiovascular and metabolic disorders. To date,
the mechanisms underlying these differences remain unknown.
Given the rising incidence of such diseases, gender-specific
research on established and emerging risk factors, such as
dysfunction of glycaemic and/or lipid metabolism, of sex
hormones and of gut microbiome, is of paramount importance. The
relationships between sex hormones, gut microbiome, and host
glycaemic and/or lipid metabolism are largely unknown even in
the homoeostasis status. Yet this knowledge gap would be pivotal
to pinpoint to key mechanisms that are likely to be disrupted in
disease context. Methods and results: Here we present the
Women4Health (W4H) cohort, a unique cohort comprising up to 300
healthy women followed up during a natural menstrual cycle, set
up with the primary goal to investigate the combined role of sex
hormones and gut microbiota variations in regulating host lipid
and glucose metabolism during homoeostasis, using a multi-omics
strategy. Additionally, the W4H cohort will take into
consideration another ecosystem that is unique to women, the
vaginal microbiome, investigating its interaction with gut
microbiome and exploring-for the first time-its role in
cardiometabolic disorders. Conclusion: The W4H cohort study lays
a foundation for improving current knowledge of women-specific
mechanisms in cardiometabolic regulation. It aspires to
transform insights on host-microbiota interactions into
prevention and therapeutic approaches for personalized health
care."
2017
Pala, Mauro; Zappala, Zachary; Marongiu, Mara; Li, Xin; Davis, Joe R; Cusano, Roberto; Crobu, Francesca; Kukurba, Kimberly R; Gloudemans, Michael J; Reinier, Frederic; Berutti, Riccardo; Piras, Maria G; Mulas, Antonella; Zoledziewska, Magdalena; Marongiu, Michele; Sorokin, Elena P; Hess, Gaelen T; Smith, Kevin S; Busonero, Fabio; Maschio, Andrea; Steri, Maristella; Sidore, Carlo; Sanna, Serena; Fiorillo, Edoardo; Bassik, Michael C; Sawcer, Stephen J; Battle, Alexis; Novembre, John; Jones, Chris; Angius, Andrea; Abecasis, Gonçalo R; Schlessinger, David; Cucca, Francesco; Montgomery, Stephen B
Population- and individual-specific regulatory variation in Sardinia Journal Article
In: Nature Genetics, 49 (5), pp. 700–707, 2017, ISSN: 1546-1718.
@article{pala_population-_2017,
title = {Population- and individual-specific regulatory variation in Sardinia},
author = {Mauro Pala and Zachary Zappala and Mara Marongiu and Xin Li and Joe R Davis and Roberto Cusano and Francesca Crobu and Kimberly R Kukurba and Michael J Gloudemans and Frederic Reinier and Riccardo Berutti and Maria G Piras and Antonella Mulas and Magdalena Zoledziewska and Michele Marongiu and Elena P Sorokin and Gaelen T Hess and Kevin S Smith and Fabio Busonero and Andrea Maschio and Maristella Steri and Carlo Sidore and Serena Sanna and Edoardo Fiorillo and Michael C Bassik and Stephen J Sawcer and Alexis Battle and John Novembre and Chris Jones and Andrea Angius and Gon{ç}alo R Abecasis and David Schlessinger and Francesco Cucca and Stephen B Montgomery},
doi = {10.1038/ng.3840},
issn = {1546-1718},
year = {2017},
date = {2017-05-01},
journal = {Nature Genetics},
volume = {49},
number = {5},
pages = {700--707},
abstract = {Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. We identified 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs), including 619 new QTLs. We identified high-frequency QTLs and found evidence of selection near genes involved in malarial resistance and increased multiple sclerosis risk, reflecting the epidemiological history of Sardinia. Using family relationships, we identified 809 segregating expression outliers (median z score of 2.97), averaging 13.3 genes per individual. Outlier genes were enriched for proximal rare variants, providing a new approach to study large-effect regulatory variants and their relevance to traits. Our results provide insight into the effects of regulatory variants and their relationship to population history and individual genetic risk.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. We identified 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs), including 619 new QTLs. We identified high-frequency QTLs and found evidence of selection near genes involved in malarial resistance and increased multiple sclerosis risk, reflecting the epidemiological history of Sardinia. Using family relationships, we identified 809 segregating expression outliers (median z score of 2.97), averaging 13.3 genes per individual. Outlier genes were enriched for proximal rare variants, providing a new approach to study large-effect regulatory variants and their relevance to traits. Our results provide insight into the effects of regulatory variants and their relationship to population history and individual genetic risk.
2016
Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation Journal Article
In: Developmental Biology, 416 (1), pp. 200–211, 2016, ISSN: 1095-564X.
@article{marongiu_novel_2016,
title = {Novel action of FOXL2 as mediator of Col1a2 gene autoregulation},
author = {Mara Marongiu and Manila Deiana and Loredana Marcia and Andrea Sbardellati and Isadora Asunis and Alessandra Meloni and Andrea Angius and Roberto Cusano and Angela Loi and Francesca Crobu and Giorgio Fotia and Francesco Cucca and David Schlessinger and Laura Crisponi},
doi = {10.1016/j.ydbio.2016.05.022},
issn = {1095-564X},
year = {2016},
date = {2016-08-01},
journal = {Developmental Biology},
volume = {416},
number = {1},
pages = {200--211},
abstract = {FOXL2 belongs to the evolutionarily conserved forkhead box (FOX) superfamily and is a master transcription factor in a spectrum of developmental pathways, including ovarian and eyelid development and bone, cartilage and uterine maturation. To analyse its action, we searched for proteins that interact with FOXL2. We found that FOXL2 interacts with specific C-terminal propeptides of several fibrillary collagens. Because these propeptides can participate in feedback regulation of collagen biosynthesis, we inferred that FOXL2 could thereby affect the transcription of the cognate collagen genes. Focusing on COL1A2, we found that FOXL2 indeed affects collagen synthesis, by binding to a DNA response element located about 65Kb upstream of this gene. According to our hypothesis we found that in Foxl2(-/-) mouse ovaries, Col1a2 was elevated from birth to adulthood. The extracellular matrix (ECM) compartmentalizes the ovary during folliculogenesis, (with type I, type III and type IV collagens as primary components), and ECM composition changes during the reproductive lifespan. In Foxl2(-/-) mouse ovaries, in addition to up-regulation of Col1a2, Col3a1, Col4a1 and fibronectin were also upregulated, while laminin expression was reduced. Thus, by regulating levels of extracellular matrix components, FOXL2 may contribute to both ovarian histogenesis and the fibrosis attendant on depletion of the follicle reserve during reproductive aging and menopause.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
FOXL2 belongs to the evolutionarily conserved forkhead box (FOX) superfamily and is a master transcription factor in a spectrum of developmental pathways, including ovarian and eyelid development and bone, cartilage and uterine maturation. To analyse its action, we searched for proteins that interact with FOXL2. We found that FOXL2 interacts with specific C-terminal propeptides of several fibrillary collagens. Because these propeptides can participate in feedback regulation of collagen biosynthesis, we inferred that FOXL2 could thereby affect the transcription of the cognate collagen genes. Focusing on COL1A2, we found that FOXL2 indeed affects collagen synthesis, by binding to a DNA response element located about 65Kb upstream of this gene. According to our hypothesis we found that in Foxl2(-/-) mouse ovaries, Col1a2 was elevated from birth to adulthood. The extracellular matrix (ECM) compartmentalizes the ovary during folliculogenesis, (with type I, type III and type IV collagens as primary components), and ECM composition changes during the reproductive lifespan. In Foxl2(-/-) mouse ovaries, in addition to up-regulation of Col1a2, Col3a1, Col4a1 and fibronectin were also upregulated, while laminin expression was reduced. Thus, by regulating levels of extracellular matrix components, FOXL2 may contribute to both ovarian histogenesis and the fibrosis attendant on depletion of the follicle reserve during reproductive aging and menopause.
2012
Rootsi, Siiri; Myres, Natalie M; Lin, Alice A; Järve, Mari; King, Roy J; Kutuev, Ildus; Cabrera, Vicente M; Khusnutdinova, Elza K; Varendi, Kärt; Sahakyan, Hovhannes; Behar, Doron M; Khusainova, Rita; Balanovsky, Oleg; Balanovska, Elena; Rudan, Pavao; Yepiskoposyan, Levon; Bahmanimehr, Ardeshir; Farjadian, Shirin; Kushniarevich, Alena; Herrera, Rene J; Grugni, Viola; Battaglia, Vincenza; Nici, Carmela; Crobu, Francesca; Karachanak, Sena; Kashani, Baharak Hooshiar; Houshmand, Massoud; Sanati, Mohammad H; Toncheva, Draga; Lisa, Antonella; Semino, Ornella; Chiaroni, Jacques; Cristofaro, Julie Di; Villems, Richard; Kivisild, Toomas; Underhill, Peter A
Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus Journal Article
In: European journal of human genetics: EJHG, 20 (12), pp. 1275–1282, 2012, ISSN: 1476-5438.
@article{rootsi_distinguishing_2012,
title = {Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus},
author = {Siiri Rootsi and Natalie M Myres and Alice A Lin and Mari J{ä}rve and Roy J King and Ildus Kutuev and Vicente M Cabrera and Elza K Khusnutdinova and K{ä}rt Varendi and Hovhannes Sahakyan and Doron M Behar and Rita Khusainova and Oleg Balanovsky and Elena Balanovska and Pavao Rudan and Levon Yepiskoposyan and Ardeshir Bahmanimehr and Shirin Farjadian and Alena Kushniarevich and Rene J Herrera and Viola Grugni and Vincenza Battaglia and Carmela Nici and Francesca Crobu and Sena Karachanak and Baharak {Hooshiar Kashani} and Massoud Houshmand and Mohammad H Sanati and Draga Toncheva and Antonella Lisa and Ornella Semino and Jacques Chiaroni and Julie {Di Cristofaro} and Richard Villems and Toomas Kivisild and Peter A Underhill},
doi = {10.1038/ejhg.2012.86},
issn = {1476-5438},
year = {2012},
date = {2012-12-01},
journal = {European journal of human genetics: EJHG},
volume = {20},
number = {12},
pages = {1275--1282},
abstract = {Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especially in the European context. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. Although progress has been recently made in resolving the haplogroup G phylogeny, a comprehensive survey of the geographic distribution patterns of the significant sub-clades of this haplogroup has not been conducted yet. Here we present the haplogroup frequency distribution and STR variation of 16 informative G sub-clades by evaluating 1472 haplogroup G chromosomes belonging to 98 populations ranging from Europe to Pakistan. Although no basal G-M201* chromosomes were detected in our data set, the homeland of this haplogroup has been estimated to be somewhere nearby eastern Anatolia, Armenia or western Iran, the only areas characterized by the co-presence of deep basal branches as well as the occurrence of high sub-haplogroup diversity. The P303 SNP defines the most frequent and widespread G sub-haplogroup. However, its sub-clades have more localized distribution with the U1-defined branch largely restricted to Near/Middle Eastern and the Caucasus, whereas L497 lineages essentially occur in Europe where they likely originated. In contrast, the only U1 representative in Europe is the G-M527 lineage whose distribution pattern is consistent with regions of Greek colonization. No clinal patterns were detected suggesting that the distributions are rather indicative of isolation by distance and demographic complexities.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especially in the European context. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. Although progress has been recently made in resolving the haplogroup G phylogeny, a comprehensive survey of the geographic distribution patterns of the significant sub-clades of this haplogroup has not been conducted yet. Here we present the haplogroup frequency distribution and STR variation of 16 informative G sub-clades by evaluating 1472 haplogroup G chromosomes belonging to 98 populations ranging from Europe to Pakistan. Although no basal G-M201* chromosomes were detected in our data set, the homeland of this haplogroup has been estimated to be somewhere nearby eastern Anatolia, Armenia or western Iran, the only areas characterized by the co-presence of deep basal branches as well as the occurrence of high sub-haplogroup diversity. The P303 SNP defines the most frequent and widespread G sub-haplogroup. However, its sub-clades have more localized distribution with the U1-defined branch largely restricted to Near/Middle Eastern and the Caucasus, whereas L497 lineages essentially occur in Europe where they likely originated. In contrast, the only U1 representative in Europe is the G-M527 lineage whose distribution pattern is consistent with regions of Greek colonization. No clinal patterns were detected suggesting that the distributions are rather indicative of isolation by distance and demographic complexities.
Crobu, Francesca; Latini, Veronica; Marongiu, Maria Franca; Sogos, Valeria; Scintu, Franca; Porcu, Susanna; Casu, Carla; Badiali, Manuela; Sanna, Adele; Manchinu, Maria Francesca; Ristaldi, Maria Serafina
Differentiation of single cell derived human mesenchymal stem cells into cells with a neuronal phenotype: RNA and microRNA expression profile Journal Article
In: Molecular Biology Reports, 39 (4), pp. 3995–4007, 2012, ISSN: 1573-4978.
@article{crobu_differentiation_2012,
title = {Differentiation of single cell derived human mesenchymal stem cells into cells with a neuronal phenotype: RNA and microRNA expression profile},
author = {Francesca Crobu and Veronica Latini and Maria Franca Marongiu and Valeria Sogos and Franca Scintu and Susanna Porcu and Carla Casu and Manuela Badiali and Adele Sanna and Maria Francesca Manchinu and Maria Serafina Ristaldi},
doi = {10.1007/s11033-011-1180-9},
issn = {1573-4978},
year = {2012},
date = {2012-04-01},
journal = {Molecular Biology Reports},
volume = {39},
number = {4},
pages = {3995--4007},
abstract = {The adult bone marrow contains a subset of non-haematopoietic cells referred to as bone marrow mesenchymal stem cells (BMSCs). Mesenchymal stem cells (MSCs) have attracted immense research interest in the field of regenerative medicine due to their ability to be cultured for successive passages and multi-lineage differentiation. The molecular mechanisms governing the self-renewal and differentiation of MSCs remain largely unknown. In a previous paper we demonstrated the ability to induce human clonal MSCs to differentiate into cells with a neuronal phenotype (DMSCs). In the present study we evaluated gene expression profiles by Sequential Analysis of Gene Expression (SAGE) and microRNA expression profiles before and after the neuronal differentiation process. Various tissue-specific genes were weakly expressed in MSCs, including those of non-mesodermal origin, suggesting multiple potential tissue-specific differentiation, as well as stemness markers. Expression of OCT4, KLF4 and c-Myc cell reprogramming factors, which are modulated during the differentiation process, was also observed. Many peculiar nervous tissue genes were expressed at a high level in DMSCs, along with genes related to apoptosis. MicroRNA profiling and correlation with mRNA expression profiles allowed us to identify putative important genes and microRNAs involved in the differentiation of MSCs into neuronal-like cells. The profound difference in gene and microRNA expression patterns between MSCs and DMSCs indicates a real functional change during differentiation from MSCs to DMSCs.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
The adult bone marrow contains a subset of non-haematopoietic cells referred to as bone marrow mesenchymal stem cells (BMSCs). Mesenchymal stem cells (MSCs) have attracted immense research interest in the field of regenerative medicine due to their ability to be cultured for successive passages and multi-lineage differentiation. The molecular mechanisms governing the self-renewal and differentiation of MSCs remain largely unknown. In a previous paper we demonstrated the ability to induce human clonal MSCs to differentiate into cells with a neuronal phenotype (DMSCs). In the present study we evaluated gene expression profiles by Sequential Analysis of Gene Expression (SAGE) and microRNA expression profiles before and after the neuronal differentiation process. Various tissue-specific genes were weakly expressed in MSCs, including those of non-mesodermal origin, suggesting multiple potential tissue-specific differentiation, as well as stemness markers. Expression of OCT4, KLF4 and c-Myc cell reprogramming factors, which are modulated during the differentiation process, was also observed. Many peculiar nervous tissue genes were expressed at a high level in DMSCs, along with genes related to apoptosis. MicroRNA profiling and correlation with mRNA expression profiles allowed us to identify putative important genes and microRNAs involved in the differentiation of MSCs into neuronal-like cells. The profound difference in gene and microRNA expression patterns between MSCs and DMSCs indicates a real functional change during differentiation from MSCs to DMSCs.
- Monserrato
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ORCID profile: https://orcid.org/0000-0001-7720-8158