The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse

J Kent; M Lee; A Schedl; S Boyle; J Fantes; M Powell; N Rushmere; C Abbott; V van Heyningen; W A Bickmore

doi:10.1006/geno.1997.4706

The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse

J Kent, M Lee, A Schedl, S Boyle, J Fantes, M Powell, N Rushmere, C Abbott, V van Heyningen, W A Bickmore

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (SeyH) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes.

Original language	English
Pages (from-to)	260-7
Number of pages	8
Journal	Genomics
Volume	42
Issue number	2
DOIs	https://doi.org/10.1006/geno.1997.4706
Publication status	Published - 1997

Keywords / Materials (for Non-textual outputs)

Abnormalities, Multiple
Animals
Aniridia
Base Sequence
Calcium-Binding Proteins
Chromosome Mapping
Chromosomes, Human, Pair 11
DNA Primers
DNA-Binding Proteins
Eye Abnormalities
Eye Proteins
Gene Deletion
Genes, Wilms Tumor
Homeodomain Proteins
Homozygote
Humans
In Situ Hybridization, Fluorescence
Kidney Neoplasms
Male
Mental Retardation
Mice
Paired Box Transcription Factors
Polymerase Chain Reaction
Repressor Proteins
Species Specificity
Syndrome
Urogenital Abnormalities
Wilms Tumor

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10.1006/geno.1997.4706

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title = "The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse",

abstract = "We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (SeyH) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes.",

keywords = "Abnormalities, Multiple, Animals, Aniridia, Base Sequence, Calcium-Binding Proteins, Chromosome Mapping, Chromosomes, Human, Pair 11, DNA Primers, DNA-Binding Proteins, Eye Abnormalities, Eye Proteins, Gene Deletion, Genes, Wilms Tumor, Homeodomain Proteins, Homozygote, Humans, In Situ Hybridization, Fluorescence, Kidney Neoplasms, Male, Mental Retardation, Mice, Paired Box Transcription Factors, Polymerase Chain Reaction, Repressor Proteins, Species Specificity, Syndrome, Urogenital Abnormalities, Wilms Tumor",

author = "J Kent and M Lee and A Schedl and S Boyle and J Fantes and M Powell and N Rushmere and C Abbott and {van Heyningen}, V and Bickmore, {W A}",

year = "1997",

doi = "10.1006/geno.1997.4706",

language = "English",

volume = "42",

pages = "260--7",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press",

number = "2",

}

TY - JOUR

T1 - The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse

AU - Kent, J

AU - Lee, M

AU - Schedl, A

AU - Boyle, S

AU - Fantes, J

AU - Powell, M

AU - Rushmere, N

AU - Abbott, C

AU - van Heyningen, V

AU - Bickmore, W A

PY - 1997

Y1 - 1997

N2 - We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (SeyH) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes.

AB - We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (SeyH) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes.

KW - Abnormalities, Multiple

KW - Animals

KW - Aniridia

KW - Base Sequence

KW - Calcium-Binding Proteins

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 11

KW - DNA Primers

KW - DNA-Binding Proteins

KW - Eye Abnormalities

KW - Eye Proteins

KW - Gene Deletion

KW - Genes, Wilms Tumor

KW - Homeodomain Proteins

KW - Homozygote

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Kidney Neoplasms

KW - Male

KW - Mental Retardation

KW - Mice

KW - Paired Box Transcription Factors

KW - Polymerase Chain Reaction

KW - Repressor Proteins

KW - Species Specificity

KW - Syndrome

KW - Urogenital Abnormalities

KW - Wilms Tumor

U2 - 10.1006/geno.1997.4706

DO - 10.1006/geno.1997.4706

M3 - Article

C2 - 9192846

SN - 0888-7543

VL - 42

SP - 260

EP - 267

JO - Genomics

JF - Genomics

IS - 2

ER -

The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse

Abstract / Description of output

Keywords / Materials (for Non-textual outputs)

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