Physiological functions of imprinted genes

B Tycko, IM Morison - Journal of cellular physiology, 2002 - Wiley Online Library
Genomic imprinting in gametogenesis marks a subset of mammalian genes for parent‐of‐
origin‐dependent monoallelic expression in the offspring. Embryological and classical …

[HTML][HTML] Parental imprinting of autosomal mammalian genes

A Efstratiadis - Current opinion in genetics & development, 1994 - Elsevier
The molecular mechanisms introducing epigenetic modifications that lead to differential
silencing of some autosomal alleles depending on their parental legacy are still largely …

Regulation of alternative splicing by the core spliceosomal machinery

AL Saltzman, Q Pan, BJ Blencowe - Genes & development, 2011 - genesdev.cshlp.org
Alternative splicing (AS) plays a major role in the generation of proteomic diversity and in
gene regulation. However, the role of the basal splicing machinery in regulating AS remains …

[HTML][HTML] Imprinting-mutation mechanisms in Prader-Willi syndrome

T Ohta, TA Gray, PK Rogan, K Buiting… - The American Journal of …, 1999 - cell.com
Microdeletions of a region termed the" imprinting center"(IC) in chromosome 15q11-q13
have been identified in several families with Prader-Willi syndrome (PWS) or Angelman …

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

CC Glenn, S Saitoh, MT Jong… - American journal of …, 1996 - ncbi.nlm.nih.gov
The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene
family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion …

Tissue-specific splicing factor gene expression signatures

AR Grosso, AQ Gomes, NL Barbosa-Morais… - Nucleic acids …, 2008 - academic.oup.com
The alternative splicing code that controls and coordinates the transcriptome in complex
multicellular organisms remains poorly understood. It has long been argued that regulation …

An imprinted, mammalian bicistronic transcript encodes two independent proteins

TA Gray, S Saitoh, RD Nicholls - Proceedings of the …, 1999 - National Acad Sciences
Polycistronic transcripts are common in prokaryotes but rare in eukaryotes. Phylogenetic
analysis of the SNRPN (SmN) mRNA in five eutherian mammals reveals a second highly …

Maternal imprinting of human SNRPN, a gene deleted in Prader–Willi syndrome

ML Reed, SE Leff - Nature genetics, 1994 - nature.com
Abstract Prader–Willi syndrome (PWS), a human neuroendocrine disorder, is associated
with deficiencies of paternal chromosome 15q12. Small nuclear ribonucleoprotein …

Functional imprinting and epigenetic modification of the human SNRPN gene

CC Glenn, KA Porter, MTC Jong… - Human Molecular …, 1993 - academic.oup.com
The SNRPN gene encodes a small nuclear ribonucleoprotein subunit, SmN, thought to be
Involved in spllcing of pre-mRNA. A closely related protein, SmB/B', Is constitutively …

Mouse models of Prader–Willi syndrome: a systematic review

S Bervini, H Herzog - Frontiers in Neuroendocrinology, 2013 - Elsevier
Prader–Willi Syndrome (PWS) is a neurodevelopmental genetic disorder caused by loss of
expression of imprinted, paternally inherited genes on chromosome 15q11q13. This …