PMID- 10512683
OWN - NLM
STAT- MEDLINE
DCOM- 19991109
LR  - 20061115
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 61
IP  - 1
DP  - 1999 Oct 1
TI  - Genomic cloning and characterization of the human homeobox gene SIX6 reveals a
      cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with
      bilateral anophthalmia and pituitary anomalies.
PG  - 82-91
AB  - The Drosophila gene sine oculis (so), a nuclear homeoprotein that is required for
      eye development, has several homologues in vertebrates (the SIX gene family).
      Among them, SIX3 is considered to be the functional orthologue of so because it
      is strongly expressed in the developing eye. However, embryonic SIX3 expression
      is not limited to the eye field, and SIX3 has been found to be mutated in some
      patients with holoprosencephaly type 2 (HPE2), suggesting that SIX3 has wide
      implications in head development. We report here the cloning and characterization
      of SIX6, a novel human SIX gene that is the homologue of the chick Six6(Optx2)
      gene. SIX6 is closely related to SIX3 and is expressed in the developing and
      adult human retina. Data from chick and mouse suggest that the human SIX6 gene is
      also expressed in the hypothalamic and the pituitary regions. SIX6 spans 2567 bp 
      of genomic DNA and is split in two exons that are transcribed into a
      1393-nucleotide-long mRNA. Chromosomal mapping of SIX6 revealed that it is
      closely linked to SIX1 and SIX4 in human chromosome 14q22.3-q23, which provides
      clues about the origin and evolution of the vertebrate SIX family. Recently three
      independent reports have associated interstitial deletions at 14q22.3-q23 with
      bilateral anophthalmia and pituitary anomalies. Genomic analyses of one of these 
      cases demonstrated SIX6 hemizygosity, strongly suggesting that SIX6
      haploinsufficiency is responsible for these developmental disorders.
CI  - Copyright 1999 Academic Press.
FAU - Gallardo, M E
AU  - Gallardo ME
AD  - Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones
      Cientificas, Velazquez 144, Madrid, 28006, Spain.
FAU - Lopez-Rios, J
AU  - Lopez-Rios J
FAU - Fernaud-Espinosa, I
AU  - Fernaud-Espinosa I
FAU - Granadino, B
AU  - Granadino B
FAU - Sanz, R
AU  - Sanz R
FAU - Ramos, C
AU  - Ramos C
FAU - Ayuso, C
AU  - Ayuso C
FAU - Seller, M J
AU  - Seller MJ
FAU - Brunner, H G
AU  - Brunner HG
FAU - Bovolenta, P
AU  - Bovolenta P
FAU - Rodriguez de Cordoba, S
AU  - Rodriguez de Cordoba S
LA  - eng
SI  - GENBANK/AF141651
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Eye Proteins)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Sine oculis homeobox homolog 3 protein)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Anophthalmos/embryology/*genetics
MH  - Chick Embryo
MH  - Child
MH  - *Chromosomes, Human, Pair 14
MH  - Cloning, Molecular
MH  - Evolution, Molecular
MH  - Eye Proteins
MH  - Female
MH  - Fetus/abnormalities
MH  - *Genes, Homeobox
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Hypothalamus/metabolism
MH  - Male
MH  - Molecular Sequence Data
MH  - *Multigene Family
MH  - Nerve Tissue Proteins/*genetics
MH  - Pituitary Gland/*abnormalities/metabolism
MH  - Retina/metabolism
EDAT- 1999/10/08 00:00
MHDA- 1999/10/08 00:01
CRDT- 1999/10/08 00:00
PHST- 1999/10/08 00:00 [pubmed]
PHST- 1999/10/08 00:01 [medline]
PHST- 1999/10/08 00:00 [entrez]
AID - 10.1006/geno.1999.5916 [doi]
AID - S0888754399959165 [pii]
PST - ppublish
SO  - Genomics. 1999 Oct 1;61(1):82-91. doi: 10.1006/geno.1999.5916.