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28 results on '"Livshits, Ludmila A."'

1. Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis

Author

Sirokha, Dmytro, primary, Rayevsky, Alexey, additional, Gorodna, Olexandra, additional, Kalynovskyi, Vitalii, additional, Zelinska, Nataliya, additional, Samson, Oksana, additional, Kwiatkowska, Krystyna, additional, Nef, Serge, additional, Jaruzelska, Jadwiga, additional, Kusz-Zamelczyk, Kamila, additional, and Livshits, Ludmila, additional

Published
2024
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2. Linkage between Psychological Factors and Response to Immune Checkpoint Inhibitor Therapy: A Preliminary Study

Author

Cohen, Miri, primary, Shamay, Yosi, additional, Czamanski-Cohen, Johanna, additional, Shulman, Katerina, additional, Keren Rosenberg, Shoshana, additional, Abu-Amna, Mahmoud, additional, Turgeman, Ilit, additional, Merkin Livshits, Ludmila, additional, Birenboim, Revital, additional, Dines, Monica, additional, and Bar-Sela, Gil, additional

Published
2023
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4. A conserved function of Human DLC3 and Drosophila Cv-c in testis development

Author

Sotillos, Sol, primary, von der Decken, Isabel, additional, Domenech Mercadé, Ivan, additional, Srinivasan, Sriraksha, additional, Sirokha, Dmytro, additional, Livshits, Ludmila, additional, Vanni, Stefano, additional, Nef, Serge, additional, Biason-Lauber, Anna, additional, Rodríguez Gutiérrez, Daniel, additional, and Castelli-Gair Hombría, James, additional

Published
2022
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5. Author response: A conserved function of Human DLC3 and Drosophila Cv-c in testis development

Author

Sotillos, Sol, primary, von der Decken, Isabel, additional, Domenech Mercadé, Ivan, additional, Srinivasan, Sriraksha, additional, Sirokha, Dmytro, additional, Livshits, Ludmila, additional, Vanni, Stefano, additional, Nef, Serge, additional, Biason-Lauber, Anna, additional, Rodríguez Gutiérrez, Daniel, additional, and Castelli-Gair Hombría, James, additional

Published
2022
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6. A conserved function of Human DLC3 and Drosophila Cv-c in testis development

Author

Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Swiss National Science Foundation, European Research Council, European Commission, National Academy of Sciences of Ukraine, Sotillos, Sol, Decken, Isabel von der, Domenech Mercadé, Ivan, Srinivasan, Sriraksha, Sirokha, Dmytro, Livshits, Ludmila, Vanni, Stefano, Nef, Serge, Biason-Lauber, Anna, Rodríguez Gutiérrez, Daniel, Castelli-Gair Hombría, James, Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Swiss National Science Foundation, European Research Council, European Commission, National Academy of Sciences of Ukraine, Sotillos, Sol, Decken, Isabel von der, Domenech Mercadé, Ivan, Srinivasan, Sriraksha, Sirokha, Dmytro, Livshits, Ludmila, Vanni, Stefano, Nef, Serge, Biason-Lauber, Anna, Rodríguez Gutiérrez, Daniel, and Castelli-Gair Hombría, James

Abstract

The identification of genes affecting gonad development is essential to understand the mechanisms causing Variations/Differences in Sex Development (DSD). Recently, a DLC3 mutation was associated with male gonadal dysgenesis in 46,XY DSD patients. We have studied the requirement of Cv-c, the Drosophila ortholog of DLC3, in Drosophila gonad development, as well as the functional capacity of DLC3 human variants to rescue cv-c gonad defects. We show that Cv-c is required to maintain testis integrity during fly development. We find that Cv-c and human DLC3 can perform the same function in fly embryos, as flies carrying wild type but not patient DLC3 variations can rescue gonadal dysgenesis, suggesting functional conservation. We also demonstrate that the StART domain mediates Cv-c's function in the male gonad independently from the GAP domain's activity. This work demonstrates a role for DLC3/Cv-c in male gonadogenesis and highlights a novel StART domain mediated function required to organize the gonadal mesoderm and maintain its interaction with the germ cells during testis development.

Published
2022

10. Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders

Author

Nøstvik, Miriam, primary, Kateta, Sarah M., additional, Schönewolf‐Greulich, Bitten, additional, Afenjar, Alexandra, additional, Barth, Magalie, additional, Boschann, Felix, additional, Doummar, Diane, additional, Haack, Tobias B., additional, Keren, Boris, additional, Livshits, Ludmila A., additional, Mei, Davide, additional, Park, Joohyun, additional, Pisano, Tiziana, additional, Prouteau, Clement, additional, Umair, Muhammad, additional, Waqas, Ahmed, additional, Ziegler, Alban, additional, Guerrini, Renzo, additional, Møller, Rikke S., additional, and Tümer, Zeynep, additional

Published
2021
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11. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author

Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, DʼAmato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Škaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P.H., Yong, Rita Y.Y., Zupanič Pajnič, Irena, and Kayser, Manfred

Published
2014
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13. The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

Author

Ilaslan, Erkut, Markosyan, Renata, Sproll, Patrick, Stevenson, Brian J., Sajek, Malgorzata, Sajek, Marcin P., Hayrapetyan, Hasmik, Sarkisian, Tamara, Livshits, Ludmila, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila, Ilaslan, Erkut, Markosyan, Renata, Sproll, Patrick, Stevenson, Brian J., Sajek, Malgorzata, Sajek, Marcin P., Hayrapetyan, Hasmik, Sarkisian, Tamara, Livshits, Ludmila, Nef, Serge, Jaruzelska, Jadwiga, and Kusz-Zamelczyk, Kamila

Abstract

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome (PAIS) and lacking AR mutations. The whole exome sequencing of the patient and his family members identified a heterozygous FKBP4 gene mutation, c.956T>C (p.Leu319Pro), inherited from the mother. The gene encodes FKBP prolyl isomerase 4, a positive regulator of the AR signaling pathway. This is the first report describing a FKBP4 gene mutation in association with a human disorder of sexual development (DSD). Importantly, the dysfunction of a homologous gene was previously reported in mice, resulting in a phenotype corresponding to PAIS. Moreover, the Leu319Pro amino acid substitution occurred in a highly conserved position of the FKBP4 region, responsible for interaction with other proteins that are crucial for the AR functional heterocomplex formation and therefore the substitution is predicted to cause the disease. We proposed the FKBP4 gene as a candidate AIS gene and suggest screening that gene for the molecular diagnosis of AIS patients lacking AR gene mutations.

Published
2020

14. Risk of Recurrent Pregnancy Loss in the Ukrainian Population Using a Combined Effect of Genetic Variants: A Case-Control Study

Author

Loizidou, Eleni M., primary, Kucherenko, Anastasia, additional, Tatarskyy, Pavlo, additional, Chernushyn, Sergey, additional, Livshyts, Ganna, additional, Gulkovskyi, Roman, additional, Vorobiova, Iryna, additional, Antipkin, Yurii, additional, Gorodna, Oleksandra, additional, Kaakinen, Marika A., additional, Prokopenko, Inga, additional, and Livshits, Ludmila, additional

Published
2021
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15. The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

Author

Ilaslan, Erkut, primary, Markosyan, Renata, additional, Sproll, Patrick, additional, Stevenson, Brian J., additional, Sajek, Malgorzata, additional, Sajek, Marcin P., additional, Hayrapetyan, Hasmik, additional, Sarkisian, Tamara, additional, Livshits, Ludmila, additional, Nef, Serge, additional, Jaruzelska, Jadwiga, additional, and Kusz-Zamelczyk, Kamila, additional

Published
2020
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16. Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

Author

Rosser, Zoe H., Zerjal, Tatiana, Hurles, Matthew E., Adojaan, Maarja, Alavantic, Dragan, Amorim, Antonio, Amos, William, Armenteros, Manuel, Arroyo, Eduardo, Barbujani, Guido, Beckman, Gunhild, Beckman, Lars, Bertranpetit, Jaume, Bosch, Elena, Bradley, Daniel G., Brede, Gaute, Cooper, Gillian, Corte-Real, Helena B. S. M., de Knijff, Peter, Decorte, Ronny, Dubrova, Yuri E., Evgrafov, Oleg, Gilissen, Anja, Glisic, Sanja, Golge, Mukaddes, Hill, Emmeline W., Jeziorowska, Anna, Kalaydjieva, Luba, Kayser, Manfred, Kivisild, Toomas, Kravchenko, Sergey A., Krumina, Astrida, Kucinskas, Vaidutis, Lavinha, Joao, Livshits, Ludmila A., Malaspina, Patrizia, Maria, Syrrou, McElreavey, Ken, Meitinger, Thomas A., Mikelsaar, Aavo-Valdur, Mitchell, R. John, Nafa, Khedoudja, Nicholson, Jayne, Norby, Soren, Pandya, Arpita, Parik, Juri, Patsalis, Philippos C., Pereira, Luisa, Peterlin, Borut, Pielberg, Gerli, Prata, Maria Joao, Previdere, Carlo, Roewer, Lutz, Rootsi, Siiri, Rubinsztein, D. C., Saillard, Juliette, Santos, Fabricio R., Stefanescu, Gheorghe, Sykes, Bryan C., Tolun, Aslihan, Villems, Richard, Tyler-Smith, Chris, and Jobling, Mark A.

Subjects
Human genetics -- Research, Europeans -- Genetic aspects, Biological sciences
Published
2000

17. Towards male individualization with rapidly mutating Y-chromosomal STRs

Author

Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred

Abstract

Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly-mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99919-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 fathers/son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database.

Published
2014

19. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author

Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, Kayser, Manfred, Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred

Abstract

Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly-mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99919-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 fathers/son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database. This article is protected by copyright. All rights reserved.

Published
2014

21. Unbalanced Translocations Involving Chromosome Region 10q25.3q26.3 in Patients with Intellectual Disability and Complex Phenotypes

Author

Hryshchenko, Nataliya V., primary, Bychkova, Ganna M., additional, Tavokina, Lyubov V., additional, Brovko, Anton O., additional, Graziano, Claudio, additional, Soloviov, Oleksandr O., additional, Hettinger, Joe A., additional, Patsalis, Philippos C., additional, Lurie, Iosif W., additional, and Livshits, Ludmila A., additional

Published
2014
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22. Analysis haemostatic system gene polymorphism in pregnant women without complications from Russia and Ukraine

Author

Vashukova, Elena S, primary, Glotov, Andrey S, additional, Kanaeva, Maria D, additional, Polushkina, Lubov B, additional, Shabanova, Nadezhda A, additional, Tatarsky, Pavel F, additional, Nosenko, Elena N, additional, Mertil, Beshir, additional, Zhabchenko, Irina A, additional, Pokhitun, Marina V, additional, Livshits, Ludmila A, additional, Zainulina, Marina S, additional, and Baranov, Vladislav S, additional

Published
2011
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24. Unbalanced Translocations Involving Chromosome Region 10q25.3q26.3 in Patients with Intellectual Disability and Complex Phenotypes.

Author

Hryshchenko, Nataliya V., Bychkova, Ganna M., Tavokina, Lyubov V., Brovko, anton O., Graziano, Claudio, Soloviov, Oleksandr O., Hettinger, Joe a., Patsalis, Philippos C., Lurie, Iosif W., and Livshits, Ludmila a.

Subjects
CHROMOSOMAL translocation, TETHERED particle motion, HUMAN abnormalities, CHROMOSOMES, PHENOTYPES
Abstract

We describe 2 Ukrainian families with unbalanced reciprocal translocations (RTs) involving the distal part of chromosome 10q. In both families, the fathers were healthy carriers of the RT. Two affected patients from the first family had an ∼2.3-Mb loss at 10q26.3 and an ∼25-Mb gain at 2q35qter, and the patient from the other family had an ∼12.5-Mb loss at 5p15.2pter and an ∼18-Mb gain at 10q25.3q26.3. We assume that intellectual disability (ID) in association with congenital anomalies observed in our patients was the result of the cumulative effect of both gains and losses of the chromosomal regions involved in each translocation. Comparison of the sizes of the deleted and duplicated segments in our families as well as in other published families with translocations affecting the distal part of 10q showed that generally deletions seem to be ∼2 times more harmful than duplications of the same size. The data obtained here may contribute to improve the diagnosis and genetic counseling of families with similar chromosomal imbalances. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2015
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27. Association of PvuII polymorphism in ESR1gene with impaired ovarian reserve in patients from Ukraine

Author

Livshyts, Ganna, Podlesnaja, Svetlana, Kravchenko, Sergey, and Livshits, Ludmila

Abstract

The association of ESR1PvuII polymorphism (rs2334693) with impaired ovarian reserve was studied by genotyping this polymorphism using PCR-RFLP in patients and two control groups from Ukraine. Statistically significant differences in the prevalence of p-allele frequency (−397T) was seen in the group of patients with impaired ovarian reserve (0.597) compared to control groups I under 35years (0.480) and II over 35years (0.453), both p<0.05. The data suggest that PvuII polymorphism of ESR1is associated with diminished ovarian reserve.

Published
2013
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28. The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

Author

Ilaslan, Erkut, Markosyan, Renata, Sproll, Patrick, Stevenson, Brian J., Sajek, Malgorzata, Sajek, Marcin P., Hayrapetyan, Hasmik, Sarkisian, Tamara, Livshits, Ludmila, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila, Ilaslan, Erkut, Markosyan, Renata, Sproll, Patrick, Stevenson, Brian J., Sajek, Malgorzata, Sajek, Marcin P., Hayrapetyan, Hasmik, Sarkisian, Tamara, Livshits, Ludmila, Nef, Serge, Jaruzelska, Jadwiga, and Kusz-Zamelczyk, Kamila

Abstract

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome (PAIS) and lacking AR mutations. The whole exome sequencing of the patient and his family members identified a heterozygous FKBP4 gene mutation, c.956T>C (p.Leu319Pro), inherited from the mother. The gene encodes FKBP prolyl isomerase 4, a positive regulator of the AR signaling pathway. This is the first report describing a FKBP4 gene mutation in association with a human disorder of sexual development (DSD). Importantly, the dysfunction of a homologous gene was previously reported in mice, resulting in a phenotype corresponding to PAIS. Moreover, the Leu319Pro amino acid substitution occurred in a highly conserved position of the FKBP4 region, responsible for interaction with other proteins that are crucial for the AR functional heterocomplex formation and therefore the substitution is predicted to cause the disease. We proposed the FKBP4 gene as a candidate AIS gene and suggest screening that gene for the molecular diagnosis of AIS patients lacking AR gene mutations.

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