Skorecki Karl - Professor

skorecki karl

Main Research Area

Professor Skorecki’s research group focuses on the regulation of specific genes, which are restricted in expression to specific differentiated cell types in the kidney, in normal and disease states. These genes encode channels and transporters, which govern movement and balance of sodium, potassium, chloride, electrolytes and water in the kidney. In addition, our laboratory is studying epigenetic effects related to telomere regulation and allelic inactivation in hereditary disease and cancer.


Research projects

1. The Molecular Medicine laboratory that Prof. Skorecki directs, together with Dr. Sara Selig and Dr. Maty Tzukerman, conducts research in varied areas of human molecular genetics and biology. These range from large-scale population genetics projects to the use of the human embryonic stem cells in cancer research. We have recently been engaged in research projects to address the following questions, which exemplify the focus and scope of our work:

  • What are the roles and mechanisms of observed perturbations in the separation of chromosome ends (telomeres) in the replicative arrest and genomic instability associated with aging in health and disease?
  • How are the “immortality enzyme”, telomerase, and cell cycle cycle regulators, modulated during human embryonic stem cell differentiation?
  • Can human embryonic stem cells be used to develop a novel experimental platform for studying the stromal reaction and influence of the microenvironment on tumorigenesis responses and for pre-clinical testing of anti-cancer therapies?
  • How does large-scale analysis of DNA sequence variation at the mtDNA and Y-chromosome loci influence our understanding of population history and impact upon patterns of genetic disease in populations and communities of the Near East?
  • Can the genetic analysis of rare disease in specific kindreds and families in northern Israel shed light on mechanisms of more common disease?
  • How can population admixture be used to facilitate the mapping of genetic loci contributing to enhanced susceptibility to common diseases?
  • Can the principles of population genetics be applied to individual cells to promote our understanding of development, differentiation and tumorigenesis?

These multidisciplinary research projects involve a dedicated research team and extensive intra- and inter-institutional collaboration with other centers in Israel and around the world.

2. Quantitive in situ SA Beta Gal (QBGAL Ver 1.0)

3. Matlab application for TRF Blot analysis

4. Cheek Swab DNA Sampling

5. Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene (June 2010).

Shay Tzur, Saharon Rosset, Revital Shemer, Guennady Yudkovsky, Sara Selig, Ayele Tarekegn, Endashaw Bekele, Neil Bradman, Walter G Wasser, Doron M Behar, Karl Skorecki


Journal articles

Click here for a list of available publications in PubMed.

Items 1 – 13

1: Behar DM, Rosset S, Tzur S, Selig S, Yudkovsky G, Bercovici S, Kopp JB, Winkler CA, Nelson GW, Wasser WG, Skorecki K.
African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.
Human Molecular Genetics 9: 1816 – 1827


2: Egozi D, Shapira M, Paor G, Ben Izhak O, Skorecki KL, Hershko DD
Regulation of the cell cycle inhibitor P27 and its ubiquith ligae Skp2 in differentiation of humor embryonic stem cells
FASEB


3: Rosenberg S., Templeton A., Feigin PD., Lancet D., Beckman J., Selig S., Hamer DH., Skorecki K
The Association of DNA sequence variation of the MAOA genetic locus with quantitative behavioral traits in normal males
Human Genetics


4: Behar DM, Metspalu E, Kivisid T, Achilli A, Hadid Y, Tzur S, Pereira L, Amorim A, Quintana-Murci L, Majamaa K, Herrnstadt C, Howell N, Balanovsky O, Kutuev I, Pshenichnov A, Gurwitz D, Bonne-Tamir B, Torroni A, Villems R, Skorecki K
The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event
Am J. Hum Genetics


5: Tzukerman M, Rosenberg T, Reiter I, Ben-Eliezer S, Denkberg G, Coleman R, Reiter Y, Skorecki K
The influence of human embryonic stem cell derived microenvironment upon targeting of human solid tumors xenografts
Cancer Research


6: Magen D, Sprecher E, Zelikovics I, Skorecki K
A novel missense mutation in SLC5A2 encoding SGLT2 underlines autosomal recessive renal glucosuria and aminoaciduria
Kidney International


7: Yalon M, Gal S, Segev Y, Selig S, Skorecki K
Sister chromatid separation at human telomeric regions
J Cell Sci


8: Behar DM, Hammer MF, Garrigan D, Villems R, Bonne-Tamir B, Richards M, Rosengarten D, Kaplan M, DellaPergola S, Quintana-Murci L, Skorecki K
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population
Eur J Hum Genet


9: Tzukerman M, Rosenberg T, Ravel Y, Reiter I, Coleman R, Skorecki K
An experimental platform for studying growth and invasiveness of tumor cells within teratomas derived from human embryonic stem cells
Proc Nat Acad Sci USA


10: Ofir R, Yalon-Hacohen M, Segev Y, Schultz A, Skorecki KL, Selig S
Replication and\or separation of some tumor telomeres is delayed beyond S-phase in pre-senescent cells
Chromosoma


11: Gilad Y, Rosenberg S, Przeworski M, Lancet D, Skorecki K
Evidence for positive selection and population structure at the human MAO-A gene
Proc Natl Acad Sci


12: Braunstein I, Cohen-Barak O, Shachaf C, Ravel Y, Yalon-Hacohen M, Mills GB, Tzukerman M, Skorecki KL
Human telomerase reverse transcriptase promoter regulation in normal and malignant human ovarian epithelial cells
Cancer Res


13: Tzukerman M, Shachaf C, Ravel Y, Braunstein I, Cohen-Barak O, Yalon-Hacohen M, Skorecki KL
Identification of a novel transcription factor binding element involved in the regulation by differentiation of the human telomerase (hTERT) promoter
Mol Biol Cell