Erythroid phenotypes associated with KLF1 mutations.

نویسندگان

  • Joseph Borg
  • George P Patrinos
  • Alex E Felice
  • Sjaak Philipsen
چکیده

Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta; Laboratory of Molecular Genetics, Department of Physiology & Biochemistry, University of Malta, Malta; University of Patras, Department of Pharmacy, University Campus, Patras, Greece; Thalassaemia Clinic, Section of Pathology, Mater Dei Hospital, Msida, Malta; Erasmus MC, Department of Cell Biology; Netherlands Consortium for Systems Biology; Rotterdam, The Netherlands. E-mail: [email protected] doi:10.3324/haematol.2011.043265

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The multifunctional role of EKLF/KLF1 during erythropoiesis.

The cellular events that lead to terminal erythroid differentiation rely on the controlled interplay of extra- and intracellular regulatory factors. Their downstream effects are highly coordinated and result in the structural/morphologic and metabolic changes that uniquely characterize a maturing red blood cell. Erythroid Krüppel-like factor (EKLF/KLF1) is one of a very small number of intrinsi...

متن کامل

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.

We investigated whether mutations in the KLF1 gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective KLF1 mutations were identified in 11 out of 131 adult samples with an elevated Hb F level (1.5-25.0%). Eleven different mutations were identified, 9 of which were previously unreported. K...

متن کامل

Erythropoiesis and globin switching in compound Klf1::Bcl11a mutant mice.

B-cell lymphoma 11A (BCL11A) downregulation in human primary adult erythroid progenitors results in elevated expression of fetal γ-globin. Recent reports showed that BCL11A expression is activated by KLF1, leading to γ-globin repression. To study regulation of erythropoiesis and globin expression by KLF1 and BCL11A in an in vivo model, we used mice carrying a human β-globin locus transgene with...

متن کامل

Krüppel-like transcription factors KLF1 and KLF2 have unique and coordinate roles in regulating embryonic erythroid precursor maturation.

The Krüppel-like transcription factors KLF1 and KLF2 are essential for embryonic erythropoiesis. They can partially compensate for each other during mouse development, and coordinately regulate numerous erythroid genes, including the β-like globins. Simultaneous ablation of KLF1 and KLF2 results in earlier embryonic lethality and severe anemia. In this study, we determine that this anemia is ca...

متن کامل

A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells.

KLF1 regulates a diverse suite of genes to direct erythroid cell differentiation from bipotent progenitors. To determine the local cis-regulatory contexts and transcription factor networks in which KLF1 operates, we performed KLF1 ChIP-seq in the mouse. We found at least 945 sites in the genome of E14.5 fetal liver erythroid cells which are occupied by endogenous KLF1. Many of these recovered s...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Haematologica

دوره 96 5  شماره 

صفحات  -

تاریخ انتشار 2011