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Series GSE60514 Query DataSets for GSE60514
Status Public on Jan 01, 2015
Title KLF1 null neonates display hydrops fetalis and a deranged erythroid transcriptome
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Third-party reanalysis
Summary We describe a case of severe neonatal anemia with kernicterus due to compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1 null human. The phenotype of severe DAT-negative non-spherocytic hemolytic anaemia (NSHA), jaundice, hepato-splenomegaly, and marked erythroblastosis is more severe than that present in CDA type IV due to dominant mutations in the second zinc-finger of KLF1. There was a very high level of HbF expression into childhood (>70%), consistent with a key role for KLF1 in human hemoglobin switching. We performed RNA-seq on circulating erythroblasts and found human KLF1 acts like mouse Klf1 to coordinate expression of many genes required to build a red cell including those encoding globins, cytoskeletal components, AHSP, heme synthesis enzymes, cell cycle regulators, and blood group antigens. We identify novel KLF1 target genes including KIF23 and KIF11 which are required for proper cytokinesis. We also identify new roles for KLF1 in autophagy, global transcriptional control and RNA splicing. We suggest loss of KLF1 should be considered in otherwise unexplained cases of severe neonatal NSHA or hydrops fetalis.
Overall design mRNA sequencing on peripheral blood from a family trio (mother, father and proband) where parents were asymptomatic and proband had severe neonatal anemia.
Contributor(s) Magor GW, Perkins AC
Citation(s) 25724378
Submission date Aug 19, 2014
Last update date May 15, 2019
Contact name Graham William Magor
Organization name Mater Research
Lab Cancer Genomics
Street address 37 Kent St
City Brisbane
State/province Queensland
ZIP/Postal code 4152
Country Australia
Platforms (1)
GPL17303 Ion Torrent Proton (Homo sapiens)
Samples (3)
GSM1481531 father
GSM1481532 mother
GSM1481533 proband
Reanalysis of GSM1297576
Reanalysis of GSM1297581
Reanalysis of GSM1297586
Reanalysis of GSM1297577
Reanalysis of GSM1297587
Reanalysis of GSM1297582
Reanalysis of GSM1297578
Reanalysis of GSM1297583
Reanalysis of GSM1297588
Reanalysis of GSM1297579
Reanalysis of GSM1297584
Reanalysis of GSM1297589
Reanalysis of GSM1297580
Reanalysis of GSM1297585
Reanalysis of GSM1297590
BioProject PRJNA258589
SRA SRP045664

Download family Format
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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE60514_gene.matrix.txt.gz 764.8 Kb (ftp)(http) TXT
SRA Run SelectorHelp
Processed data are available on Series record
Raw data are available in SRA

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