A global disorder of imprinting in the human female germ line

Nature

Volumn 416, Issue 6880, 2002, Pages 539-542

  Judson, Hannah ^a   Hayward, Bruce E ^a   Sheridan, Eamonn ^a   Bonthron, David T ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; MUTAGENESIS; TISSUE;

EMBRYO;

GENES;

CIS ACTING ELEMENT; TRANS ACTING FACTOR;

GENETICS; IMPRINTING;

ALLELE; ANDROGENESIS; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CELL PROLIFERATION; CHROMOSOME 11P; CIS ISOMER; CONCEPTION; DNA METHYLATION; DNA MODIFICATION; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FEMALE GENITAL SYSTEM; GENE MUTATION; GENOME IMPRINTING; GERM LINE; HUMAN; HYDATIDIFORM MOLE; OOCYTE DEVELOPMENT; PHENOTYPE; PRIORITY JOURNAL; PROCESS DESIGN; RECESSIVE GENE; SYNDROME DELINEATION;

ADULT; CONSANGUINITY; DNA METHYLATION; FEMALE; GENETIC MARKERS; GENOMIC IMPRINTING; HUMANS; HYDATIDIFORM MOLE; MALE; MUTATION; OOCYTES; OVARIAN NEOPLASMS; POLYMERASE CHAIN REACTION; PREGNANCY; SULFITES;

MAMMALIA;

EID: 0037041453     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/416539a     Document Type: Article

References (27)

1. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
2. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
3. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H 19 domain
4. An imprinted locus associated with transient neonatal diabetes mellitus
5. A GNAS1 imprinting defect in pseudohypoparathyroidism type 1B
6. Androgenetic origin of hydatidiform mole
7. Genetic mapping of a maternal locus responsible for familial hydatidiform moles
8. A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution
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10. High sensitivity mapping of methylated cytosines
11. Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis
12. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
13. Imprinting-mutation mechanisms in Prader-Willi syndrome
14. Sequence and functional comparison in the Beckwith-Wiedemann region: Implications for a novel imprinting centre and extended imprinting
15. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
16. Maternal methylation imprints on human chromosome 15 are established during or after fertilization
17. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization
18. Imprinting of PEG3, the human homologue of a mouse gene involved in nurturing behavior
19. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
20. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
21. An imprinted antisense transcript at the human GNAS1 locus
22. Identification of a methylation imprint mark within the mouse Gnas locus
23. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
24. The cell cycle control gene ZAC/PLAGL1 is imprinted - A strong candidate gene for transient neonatal diabetes
25. Evolution of imprinting mechanisms: The battle of the sexes begins in the zygote
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27. A human parthenogenetic chimaera