PMID- 10409432
OWN - NLM
STAT- MEDLINE
DCOM- 19990908
LR  - 20190828
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 59
IP  - 2
DP  - 1999 Jul 15
TI  - Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks
      syndrome critical region.
PG  - 203-12
AB  - Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome characterized 
      by mental and developmental defects resulting from the absence of a segment of
      one chromosome 4 short arm (4p16.3). Recently, Pitt-Rogers-Danks syndrome (PRDS),
      which is also due to a deletion of chromosome 4p16.3, has been shown to be
      allelic to WHS. Due to the complex and variable expression of these disorders, it
      is thought that WHS/PRDS results from a segmental aneusomy of 4p resulting in
      haploinsufficieny of an undefined number of genes that contribute to the
      phenotype. In an effort to identify genes that contribute to human development
      and whose absence may contribute to the phenotype associated with these
      syndromes, we have generated a transcript map of the 165-kb critical region and
      have identified a number of potential genes. One of these genes, WHSC2, which was
      identified with the IMAGE cDNA clone 53283, has been characterized. Sequence
      analysis defined an open reading frame of 1584 bp (528 amino acids), and
      transcript analysis detected a 2.4-kb transcript in all fetal and adult tissues
      tested. In parallel, the mouse homologue was isolated and characterized. Mouse
      sequence analysis and the pattern of expression are consistent with the clone
      being the murine equivalent of the human WHSC2 gene (designated Whsc2h). The data
      from sequence and transcript analysis of this new human gene in combination with 
      the lack of significant similarity to proteins of known function imply that it
      represents a novel gene. Most importantly, its location within the WHSCR suggests
      that this gene may play a role in the phenotype of the
      Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome.
CI  - Copyright 1999 Academic Press.
FAU - Wright, T J
AU  - Wright TJ
AD  - Genomics Group, Life Sciences Division, MS M888, Los Alamos, New Mexico 87545,
      USA.
FAU - Costa, J L
AU  - Costa JL
FAU - Naranjo, C
AU  - Naranjo C
FAU - Francis-West, P
AU  - Francis-West P
FAU - Altherr, M R
AU  - Altherr MR
LA  - eng
SI  - GENBANK/AF101434
SI  - GENBANK/AF101435
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (3' Untranslated Regions)
RN  - 0 (5' Untranslated Regions)
RN  - 0 (DNA, Complementary)
RN  - 0 (NELFA protein, human)
RN  - 0 (Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (Transcriptional Elongation Factors)
SB  - IM
MH  - 3' Untranslated Regions
MH  - 5' Untranslated Regions
MH  - Adult
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - DNA, Complementary/chemistry/genetics
MH  - Embryo, Mammalian/metabolism
MH  - Embryonic and Fetal Development
MH  - Exons
MH  - Female
MH  - Gene Expression
MH  - Gene Expression Regulation, Developmental
MH  - Genes/*genetics
MH  - Growth Disorders/*genetics
MH  - Humans
MH  - In Situ Hybridization
MH  - Intellectual Disability/*genetics
MH  - Introns
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - Proteins/*genetics
MH  - RNA, Messenger/genetics/metabolism
MH  - Sequence Alignment
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
MH  - Tissue Distribution
MH  - Transcription, Genetic
MH  - Transcriptional Elongation Factors
EDAT- 1999/07/20 00:00
MHDA- 1999/07/20 00:01
CRDT- 1999/07/20 00:00
PHST- 1999/07/20 00:00 [pubmed]
PHST- 1999/07/20 00:01 [medline]
PHST- 1999/07/20 00:00 [entrez]
AID - 10.1006/geno.1999.5871 [doi]
AID - S0888-7543(99)95871-8 [pii]
PST - ppublish
SO  - Genomics. 1999 Jul 15;59(2):203-12. doi: 10.1006/geno.1999.5871.