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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:29

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Mutations in DSTYK and dominant urinary tract malformations.

Simone Sanna-Cherchi1, Rosemary V Sampogna1, Natalia Papeta1

  • 1Divisions of Nephrology (S.S.-C., R.V.S., N.P., K.E.B., S.N.N., B.J.P., P.L.W., M.V., F.L., R.S., N.P., N.K., K.K., Q.A.-A., A.G.G.) and Pediatric Nephrology (P.L.W.) and the Department of Pathology (V.D.D.), Columbia University, and the Department of Medicine, St. Luke's-Roosevelt Hospital Center (S.S.-C.), New York; the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (M.C., M.S., R.P.L.); the Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea (M.C.); the Division of Nephrology, Dialysis, and Transplantation (M.B., F.L., G.C., A.C., M.D., C.M., G.P., G.M.G.) and Laboratory of Molecular Genetics (G.S., R.R.), Istituto Giannina Gaslini, the Division of Nephrology, Department of Internal Medicine (M.B.), and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (R.R.), University of Genoa, and IRCCS San Martino-IST (M.B.), Genoa; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia (C.I., F.S.); the Department of Clinical Medicine, Nephrology, and Health Sciences, Unit of Nephrology, University of Parma, Parma (B.B., S.G., L.A.); the Department of Medical and Surgical Sciences, University of Foggia, Foggia (M.G.); the Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.); and the Division of Nephrology and Dialysis, Hospital of Alghero, Alghero (D.C.) - all in Italy; the Nephrology Division, Massachusetts General Hospital (Y.L., I.A.D.), and Department of Genetics, Harvard Medical School (I.A.D.), Charlestown, MA; University Children's Hospital, Medical School of Skopje, Skopje, Macedonia (V.J.L., N.R.-B., Z.G., V.T.); the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland (A.M.-K., A.L.-B.); and the Department of Pediatrics, University Hospital of Split (D.K.V., M.S.), and the Department of Anatomy, Histology, and Embryology (K.V., M.S.-B.), School of Medicine (M.S.), University of Split, Split, Croatia.

The New England Journal of Medicine
|July 19, 2013
PubMed
Summary

Mutations in the dual serine-threonine and tyrosine protein kinase (DSTYK) gene are a significant cause of congenital kidney and urinary tract abnormalities. This discovery sheds light on the genetic factors influencing urinary tract development.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Nephrology

Background:

  • Congenital abnormalities of the kidney and urinary tract (CAKUT) are a leading cause of pediatric kidney failure.
  • The genetic underpinnings of CAKUT are complex and not fully understood.

Purpose of the Study:

  • To identify genetic variants associated with familial CAKUT.
  • To investigate the role of DSTYK in urinary tract development.

Main Methods:

  • Performed genomewide linkage analysis and whole-exome sequencing in a family with autosomal dominant CAKUT.
  • Conducted sequence analysis in 311 unrelated CAKUT patients.
  • Performed histologic, functional studies, and zebrafish knockdown experiments.

Main Results:

  • Identified a rare, deleterious splice-site mutation in DSTYK in affected family members.
  • Found independent DSTYK mutations in 7 of 311 unrelated CAKUT patients (2.3%).
  • DSTYK knockdown in zebrafish caused developmental defects and impaired fibroblast growth factor (FGF) signaling.

Conclusions:

  • DSTYK mutations are a major cause of human CAKUT.
  • DSTYK functions downstream of FGF signaling in urinary tract development.