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34 records found


Taxon: Human

Chromosome: 07

Location:

Gene: "UPD"

Description: More than 60 cases of maternal iso- and hetero-disomy have been reported (Kotzot D & Uterman G, 2005; Kotzot D, 2007 ).
The frequent association with Silver-Russell syndrome indicates the presence of imprinted growth gene(s) (Kotzot D et al, 1995; Langlois S et al, 1995; Kotzot D et al, 2000). Multiple genes on chromosome 7 show parent-of-origin dependent methylation in cultured lymphoblasts but not in blood DNA (Hannula K et al, 2001 ).
Also see entry for Silver Russell syndrome.

Several cases of cystic fibrosis due to paternal UPD have been reported (Pan Y et al 1998; Goh DL et al 2007; Le Caignec C et al 2007). The former case also had sinus inversus totalis and primary ciliary dyskinesia.
In one case of CF there was marked post-natal obesity and developmental delay (Fares F et al, 2006).

Category: Disomy (UPD)

Record:19 Last Modified 1/19/2017

Taxon: Human

Chromosome: 07

Location:

Gene: "Acute myeloid leukaemia"

Description: Among 10 children with AML or related conditions, 1 case of infant monosomy 7 syndrome and two cases of biphenotypic leukaemia showed loss of maternal chromosome 7, whereas five cases with myelodysplastic syndrome and 2 cases with de novo AML showed loss of paternal alleles. These results have been used to suggest that imprinted gene(s) on chromosome 7 may be involved in MDS and AML (Katz F et al, 1992). Note the small numbers and the apparent use of "post hoc" stratification of the disease subtypes.

Category: Other

Record:279 Last Modified 3/15/2007

Taxon: Human

Chromosome: 07

Location:

Gene: Alcoholism

Description: Using the COGA dataset released for the Genetic Analysis Workshop 14, a tendency toward a paternal linkage effect for alcoholism was detected at 99-122 cM on chromosome 7 (Strauch K et al, 2005).

Category: Parental effect

Links: Record:1031 Last Modified 6/8/2007

Taxon: Human

Chromosome: 07

Location:

Gene: "Silver-Russell syndrome"

Description: More than 30 cases of maternal iso- and hetero-disomy in Silver-Russell syndrome indicate the presence of imprinted growth gene(s) on chromosome 7.
Several cases involving maternally inherited duplication of 7p11.2-p13 in children with characteristic Silver-Russell syndrome indicate that a "double dose" of maternally expressed genes in this region suppresses growth (Monk D et al, 2000; Monk D et al, 2002).
However, deletion and maternal UPD of 7q31-qter is also associated with SRS suggesting two separate candidate regions (Hannula K et al 2001; Hitchins MP et al 2001; Reboul MP et al, 2006).
Eggermann T et al (2011) reported a case with deletion of the paternal allele in 7q32 harbouring the MEST/PEG1 gene in a growth-retarded patient, consistent with a function of this imprinted gene in the aetiology of SRS.
Two cases with maternal i(7q) and paternal i(7p) suggest the presence of an imprinted gene(s) on 7q that regulate post-natal growth (Kotzot D et al 2001).
Using high density genotyping arrays, Bruce MK et al (2005) detected segmental (partial) matUPD7 in three cases of RSS, but no region of common isodisomy could be identified.

Category: Imprinting disorder

Links: OMIM    Record:296 Last Modified 1/27/2017

Taxon: Human

Chromosome: 07

Location: 7p11.2-p12

Gene: GRB10 (MEG1)

Description: GRB10 (Growth factor receptor-bound protein 10, MEG1).
Blagitko N et al, 2000 reported paternal-specific expression of the beta, gamma1, gamma5, gamma6, epsilon and delta isoforms of GRB10 in fetal brain but maternal-specific expression of the gamma1 isoform in fetal muscle (gamma2 was biallelic in muscle).
Hitchins MP et al, 2001 observed preferential paternal expression of GRB10 specifically in the developing central nervous system including brain and spinal cord, with biallelic expression in peripheral tissues. Although they claimed paternal expression of the beta and delta isoforms in brain, it now seems likely that the 3'UTR based assay for the delta isoform was likely to detect all other isoforms.
McCann JA et al, 2001 showed preferential paternal expression of the gamma 1 isoform in the brain, but biallelic expression of gamma 1 in all other tissues. In contrast, the gamma 2 isoform was predominantly maternally expressed in muscle, but biallelically expressed in all other tissues. Although GRB10 is a candidate for Silver-Russell syndrome, absence of imprinting in growth plate cartilage was presented as evidence against its involvement in SRS.
Yoshihashi H et al 2000 reported that the GRB10 gene is monoallelically expressed in human fetal brain tissues and is transcribed from the maternally derived allele in somatic-cell hybrids.
A maternally methylated DMR has been well documented (chr7:50817247-50818365 NCBI build 36.1) (Arnaud P et al, 2003; Hikichi T et al, 2003).
Disruption of the maternal allele of Grb10 resulted in overgrowth of both the embryo and placenta such that mutant mice were approximately 30% larger than normal (Charalambous M et al, 2003).
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast cell lines.
In their review, Eggermann T et al (2019) conclude that disturbances of the maternally inherited GRB10 copy affect prenatal growth: Duplications or UPD of the maternal allele are associated with prenatal growth retardation, whereas the lack of the maternal copy results in prenatal overgrowth (i.e. in case of upd (7) pat).

Category: Imprinted genes

Links: Gene   OMIM    Record:16 Last Modified 6/9/2019

Taxon: Human

Chromosome: 07

Location: 7p12

Gene: COBL

Description: COBL (cordon-bleu WH2 repeat) was biallelically expressed in brain (1), eye (3), heart (4), gut (4), kidney (2), adrenals (1), liver (1), lung (3), pancreas (2), skin (4), skeletal muscle (1), and placenta (4) of first and second trimester fetuses (Hitchins MP et al, 2002).

Category: Other

Links: Gene   Record:1402 Last Modified 1/25/2016

Taxon: Human

Chromosome: 07

Location: 7p12.2, 50.6 Mb

Gene: DDC

Description: DDC (dopa decarboxylase) lies 27 kb from GRB10, an imprinted gene implicated in Silver-Russell syndrome. In an association study between bipolar affective disorder and a DDC allele with a 4 bp deletion polymorphism (in a neuronally untranslated exon), 100 case-parent trios indicated preferential paternal transmission (P = 0.006), suggesting a parent of origin effect (Borglum AD et al, 2003). Previous studies have shown that although there is evidence of asynchronous replication of DDC, expression analysis shows biallelic expression of DDC in various human (brain, eye, tongue, gut, kidney, liver, lung, skin, placenta) and mouse (brain, liver, kidney) tissues (Hitchins MP et al, 2002).
Baran Y et al (2015) found no evidence of imprinting in multiple adult tissues.
Imprinting of the exon 1a transcript of mouse Ddc has now been documented in mouse heart (Menheniott TR et al, 2007).

Category: Parental effect

Links: Gene   Record:407 Last Modified 11/25/2018

Taxon: Human

Chromosome: 07

Location: 7p15.3

Gene: RPS2P32

Description: RPS2P32 (ribosomal protein S2 pseudogene 32) contains a differentially methylated CpG island that showed more methylation on the maternal allele in three of three informative trios (Grothaus K et al, 2016).
Four of six patients with multilocus imprinting defect showed less than 20% methylation, whereas two showed normal levels of methylation.
RPS2P32 was biallelically expressed in blood from one child.
RPS2P32 is approximately 20 kb downstream of IGF2BP3 which was biallelically expressed in the placenta (Grothaus K et al, 2016).

Category: DMR or ICR

Links: Gene   Record:1407 Last Modified 3/2/2016

Taxon: Human

Chromosome: 07

Location: 7p21-p22

Gene: Alcoholism

Description: Using the COGA dataset released for the Genetic Analysis Workshop 14, a possible paternal linkage effect for alcoholism was detected at 1.2-13.7 cM (Liu X-Q et al, 2005), and significant evidence for linkage, with imprinting, to alcoholism was detected at D7S1790 (21 cM, 7p21.3) (Shete S and Yu R, 2005). Strauch K et al (2005) detected a tendency toward a paternal linkage effect for alcoholism at 18-21 cM.

Category: Parental effect

Links: Record:1025 Last Modified 7/2/2006

Taxon: Human

Chromosome: 07

Location: 7q11.23

Gene: "Williams syndrome"

Description: Williams syndrome was associated with significantly more severe growth retardation and microcephaly if the associated deletion of 7q11.23 was maternally derived (Perez Jurado LA et al, 1996).

Category: Other

Record:17 Last Modified 4/27/2010

Taxon: Human

Chromosome: 07

Location: 7q21

Gene: MAGI2

Description: MAGI2 was monoallelically expressed in 4 placentas and the expressed allele could be defined as paternal in 2 cases. In 3 cases, the expression was found to be biallelic (Barbaux S et al, 2012).
In a survey of 32 tissues, Baran Y et al (2015) found biallelic expression in 29 and imprinted (or "consistent with imprinted") expression in three tissues (cultured fibroblasts, cultured lymphoblasts and cultured T cells).
MAGI2 is reported to be imprinted and monoallelically expressed from maternal allele in mice and cows.
The combination of polymorphic imprinting, absence of imprinting in primary tissues and opposite parents of origin in human vs mouse and cow, raises significant doubts about the validity of the authors claims of imprinting.

Category: Other

Links: Gene   Record:1355 Last Modified 11/25/2018

Taxon: Human

Chromosome: 07

Location: 7q21.3

Gene: CASD1 (C7orf12; NBLA04196)

Description: In humans, CASD1 showed biallelic expression in first trimester and term placentas, and in fetal tissues (Monk D et al, 2008). However, mouse Casd1 was reported to be imprinted in embryo and placenta.

Category: Other

Links: Gene   Record:1361 Last Modified 2/4/2013

Taxon: Human

Chromosome: 07

Location: 7q21.3 (92.9 Mb Build 36.1)

Gene: CALCR

Description: Transcripts from CALCR (calcitonin receptor) were detected only from the maternal allele in human-mouse monochromosomal hybrids (Okita C et al, 2003). In mouse, Calcr is preferentially expressed from the maternal allele in brain.
Monk D et al, (2008) found monoallelic expression of CALCR in 4 of 5 brains. In view of results from Okita et al. and mouse studies, it is reasonable to assume maternal expression. Other tissues showed biallelic expression.
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast cell lines.

Category: Imprinted genes

Links: Gene   Record:405 Last Modified 7/15/2012

Taxon: Human

Chromosome: 07

Location: 7q21.3 (93.4 Mb, Build 36.1)

Gene: GNGT1

Description: Transcripts from GNGT1 (guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1) were reported to be detected only from the maternal allele in human-mouse monochromosomal hybrids (Fig. 1 appears to show some paternal expression). Direct evidence of imprinting was not obtained (Okita C et al, 2003). Monk D et al, (2008) found biallelic expression in placenta and all fetal tissues examined.

Category: Other

Links: Gene   Record:602 Last Modified 5/20/2008

Taxon: Human

Chromosome: 07

Location: 7q21.3 (93.4 Mb Build 36.1)

Gene: TFPI2

Description: TFPI2 (tissue factor pathway inhibitor 2) expression was restricted to the placenta. Maternal expression was observed in 4 of 8 first trimester placenta samples (8-14 weeks gestation). The remaining 4 showed biallelic expression, suggestive of either polymorphic imprinting or cell-type specific imprinting in a tissue containing multiple cell types (Monk D et al, 2008).

Category: Imprinted genes

Links: Gene   Record:1195 Last Modified 11/1/2015

Taxon: Human

Chromosome: 07

Location: 7q21.3 (94.05 Mb Build 36.1)

Gene: SGCE

Description: SGCE (sarcoglycan epsilon) shares a promoter CpG island with PEG10. The transcription start sites of these two genes are 115 bp apart (in opposite directions). The promoter CpG island is maternally methylated in peripheral blood leukocytes. In UPD7 cell lines only a weak RT-PCR signal was observed in matUPD7 whereas a strong signal was seen in patUPD7 lines suggesting preferential paternal expression (Grabowski M et al. 2003).
Morcos L et al (2011) claimed to validate paternal expression of SGCE in lymphoblastoid cell lines, but only two families trios were studied and specific data were not presented.
SGCE is involved in dystrophin-associated glycoprotein assembly in striated muscles and is associated with myoclonus dystonia (MD) which shows autosomal dominant inheritance with reduced penetrance upon maternal transmission. Among 6 families with SGCE mutations, 49 of 62 clinically affected individuals inherited the disease paternally, whereas 4 inherited it maternally (9 unknown). Of 18 asymptomatic carriers, 14 inherited the mutation maternally and 3 paternally (1 unknown) (Zimprich A et al. 2001). This inheritance pattern suggests preferential paternal expression of SGCE as reported in mouse Sgce (Piras G et al. 2000).
Two families with unaffected parents and affected offspring were analyzed for inheritance and expression of the SGCE gene. In one family, both offspring were affected and showed expression from paternally inherited mutant alleles only. In the second family the single affected child also had a paternally inherited mutant allele, but showed biallelic expression that was associated with partial loss of methylation at several CpG nucleotides in the promoter region of SGCE (Muller B et al. 2002).
A maternally methylated germline DMR overlaps exon1 of PEG10 and SGCE (chr7:94122795-94124463 NCBI build 36.1) (Ono R, et al. 2003).
A case of myoclonus-dystonia due to maternal uniparental disomy of 7p11.2-7q11.21, including SGCE, was used to demonstrate biallelic methylation and lack of expression in blood, consistent with exclusive paternal expression of SGCE (Guettard E et al, 2008).

Category: Imprinted genes

Links: Gene   Record:267 Last Modified 7/10/2016

Taxon: Human

Chromosome: 07

Location: 7q21.3 (94.1 Mb Build 36.1)

Gene: PEG10

Description: PEG10 (paternally expressed gene 10) is paternally expressed and is located next to SGCE which also shows evidence of paternal expression. PEG10 is a Sushi-ichi retrotransposon-derived gene with two predicted open reading frames similar to viral Gag and Pol proteins (Ono R, et al. 2001) and contains one intron. PEG10 is highly conserved amongst mammals, and mouse Peg10 and Sgce are also paternally expressed (Ono R, et al. 2003).
A maternally methylated germline DMR (reported in mouse) overlaps exon1 of PEG10 and SGCE (chr7:94122795-94124463 NCBI build 36.1) (Ono R, et al. 2003).
Baran Y et al (2015) found evidence of imprinting of PEG10 (using RNA-seq) in multiple adult tissues (adrenal gland, tibial artery, brain, mammary tissue, transformed fibroblasts, cortex of kidney, lung, tibial nerve, pituitary and testis).

Category: Imprinted genes

Links: Gene   Record:415 Last Modified 8/3/2017

Taxon: Human

Chromosome: 07

Location: 7q21.3 (94.4 Mb Build 36.1)

Gene: PPP1R9A (neurabin-I) (Insufficient evidence)

Description: PPP1R9A (protein phosphatase 1, regulatory subunit 9A; neurabin-1) was reported to show biased or monoallelic expression in some tissues (tongue, eye, limb, placenta) in some embryos, but the pattern was inconsistent within tissues and within embryos (Nakabayashi K et al, 2004). Only one embryo was informative for isoform 1 (maternal expression in tongue and eye) and two were informative for isoform 2 (maternal expression in tongue only in one, and placenta only in the other)
In term placenta, PPP1R9A was biallelic in 5 samples (Monk D et al, 2008).
The human PPP1R9A promoter CpG island did not show differential methylation (Nakabayashi K et al, 2004).
Baran Y et al (2015) found no evidence of imprinting in multiple adult tissues.
There is insufficient evidence to classify human PPP1R9A as imprinted.

Category: Other

Links: Gene   Record:425 Last Modified 11/25/2018

Taxon: Human

Chromosome: 07

Location: 7q21.3 (94.8 Mb Build 36.1)

Gene: PON1 (Paraoxonase 1)

Description: PON1 was detected only from the paternal allele in human-mouse monochromosomal hybrids. Since PON1 expression was undetectable in human lymphoblasts direct evidence of imprinting was not obtained (Okita C et al, 2003).
Since no additional data have been published on PON1 imprinting (2008) and since it is a widely studied gene, it is no longer included in the list of provisionally imprinted genes.

Category: Other

Links: Gene   Record:404 Last Modified 5/20/2008

Taxon: Human

Chromosome: 07

Location: 7q21.3 (94.83 Mb Build 36.1)

Gene: PON3 (paraoxonase 3)

Description: The PON genes (1-3) are closely related paralogs (65% amino acid similarity) located adjacently on chromosome 7. These proteins have been associated with coronary heart disease.
Human PON3 is biallelically expressed in placenta and fetal tissues (Monk D et al, 2008)
Mouse homologue Pon3 is preferentially maternally expressed in placenta and yolk sac samples (day 10 and 13 respectively) (Ono R, et al. 2003).

Category: Other

Links: LocusLink   OMIM    Unigene Record:414 Last Modified 4/30/2010

Taxon: Human

Chromosome: 07

Location: 7q21.3 (94.9 Mb Build 36.1)

Gene: PON2 (paraoxonase 2)

Description: The PON genes (1-3) are closely related paralogs (65% amino acid similarity) located adjacently on chromosome 7. These proteins have been associated with coronary heart disease.
Human PON2 is biallelically expressed in placenta and fetal tissues (Monk D et al, 2008).
The mouse homologue Pon2 is preferentially maternally expressed in placenta and yolk sac samples (day 10 and 13 respectively) (Ono R, et al. 2003).

Category: Other

Links: Gene   Record:413 Last Modified 5/20/2008

Taxon: Human

Chromosome: 07

Location: 7q21.3 (95.0 Mb Build 36.1)

Gene: ASB4

Description: This is the location of the human homologue of mouse gene Asb4 (ankyrin repeat-containing SOCS box protein 4) which is maternally expressed (Mizuno Y et al, 2002).
Monk D et al, (2008) found biallelic expression of ASB4 in placenta, liver and heart of three fetuses.

Category: Other

Links: Gene   Record:317 Last Modified 5/20/2008

Taxon: Human

Chromosome: 07

Location: 7q22

Gene: DLX5 (refuted)

Description: DLX5 (distal-less homeo box 5) was reported to show exclusive maternal expression in lymphoblast RNA, and preferential maternal expression in brain (Okita C et al, 2003). However, evidence for imprinted expression of DLX5 (and DLX6) has been firmly refuted (Schule B et al, 2007; Monk D et al, (2008)).

Category: Other

Links: Record:403 Last Modified 5/20/2008

Taxon: Human

Chromosome: 07

Location: 7q22

Gene: APS

Description: Transcripts from APS (adaptor protein with pleckstrin homology and src homology 2 domains, AA584712/LOC136472) were reported to be detected only from the maternal allele in human-mouse monochromosomal hybrids (however, Fig 1 appears to show some paternal expression). Direct evidence of imprinting was not obtained (Okita C et al, 2003).

Category: Other

Links: Gene   Record:603 Last Modified 26/01/2005

Taxon: Human

Chromosome: 07

Location: 7q22.1-22.2, ~112 cM

Gene: Autism susceptibility

Description: Data from a genome-wide scan for autism susceptibillity loci in 219 affected sib-pairs was analysed by parent-of-origin linkage modelling. This indicated a distinct region of paternal identity by descent sharing at ~112 cM (paternal MLS = 1.46, maternal MLS = 0.53) (Lamb JA et al, 2005).

Category: Parental effect

Links: Record:998 Last Modified 11/29/2007

Taxon: Human

Chromosome: 07

Location: 7q32.1-32.3, ~135 cM

Gene: Autism susceptibility

Description: Data from a genome-wide scan for autism susceptibillity loci in 219 affected sib-pairs was analysed by parent-of-origin linkage modelling. This indicated a distinct region of maternal identity by descent sharing at ~135 cM (maternal MLS = 1.83, paternal MLS = 0.28 ) (Lamb JA et al, 2005).

Category: Parental effect

Links: Record:1000 Last Modified 11/29/2007

Taxon: Human

Chromosome: 07

Location: 7q32.2, (129.7 Mb Build 36.1)

Gene: CPA4

Description: CPA4 (carboxypeptidase A4) was preferentially expressed from the maternal allele in several fetal tissues, but not in fetal brain (Kayashima T et al, 2003). Bentley et al showed allelic imbalance in 6 to 7 of nine fetuses, and in three cases the preferentially expressed allele could be identified as maternal (Bentley L et al 2003).

Category: Imprinted genes

Links: Gene   Record:396 Last Modified 11/28/2007

Taxon: Human

Chromosome: 07

Location: 7q32.2 (129.9 Mb Build 36.1)

Gene: MEST (PEG1)

Description: MEST (Mesoderm-specific transcript / Paternally expressed gene 1, member of the alpha/beta hydroxylase fold family) is paternally expressed in human fetal tissues (Kobayashi S et al, 1997). There are two splice variants and initially only one (isoform 1) was shown to be imprinted (Kosaki K et al, 2000). Subsequently, preferential expression of the paternal allele of isoform 2 has been demonstrated in fetal kidney and placenta, but not in 11 other fetal tissues (Nakabayashi K et al, 2002). McMinn J et al, 2006 also showed preferential expression of the paternal allele of isoform 2 in 10 out of 26 placentae, suggesting polymorphic imprinting. MEST (?isoform 2) is biallelically expressed in adult blood (Riesewijk AM et al, 1997) and in breast cancer (Pedersen IS et al, 1999; Pedersen IS et al, 2002).
A maternally methylated germline DMR (reported in mouse) is located in the promoter of MEST (chr7:129917976-129920347 NCBI build 36.1)(Lucifero D et al, 2002).
See also MESTIT1 (MEST intronic transcript 1, PEG1-AS)
A separate transcript (MEST 3'UTR) that extends from the 3' end of MEST probably forms one of the COPG2 antisense transcripts (Yamasaki K et al, 2000).
In a study of 10 heterozygous in vitro-derived human preimplantation embryos, seven showed paternal expression, two showed preferential paternal expression and one was biallelic. Further analysis of 61 preimplantation embryos showed eight embryos with bialleic expression consistent with polymorphic imprinting. The authors provided evidence that polymorphic imprinting at MEST locus is attributable to isoform 2 (Huntriss JD et al, 2013).
Baran Y et al (2015) found evidence of imprinting of MEST (using RNA-seq) in multiple adult tissues (subcutaneous adipose, visceral adipose, tibial artery, mammary tissue, lung, tibial nerve and fibroblasts). Allelic expression of MEST in other tissues was also consistent with imprinting (EBV-transformed lymphocytes, pituitary, skeletal muscle, sun exposed skin, brain, uterus, aorta, left ventricle, atrial appendage, cortex of kidney and not sun exposed skin).

Category: Imprinted genes

Links: Gene   Record:18 Last Modified 8/3/2017

Taxon: Human

Chromosome: 07

Location: 7q32.2 (129.9 Mb Build 36.1)

Gene: MESTIT1 (PEG1-AS)

Description: MESTIT1 (PEG1-AS) is a 4.2 kb antisense transcript, located between the P1 and P2 promoters of MEST. It is expressed in multiple fetal tissues and is paternally expressed in all tissues examined (Li T et al, 2002; Nakabayashi K et al, 2002).

Category: Imprinted genes

Links: Gene   Record:290 Last Modified 11/29/2007

Taxon: Human

Chromosome: 07

Location: 7q32.2 (129.93 Mb Build 36.1)

Gene: COPG2IT1 (MIT1, CIT1)

Description: COPG2IT1 (coatomer protein complex, subunit gamma 2, intronic transcript, MIT1, CIT1) was expressed from the paternal allele in all fetal tissues examined, but showed biallelic expression in adult blood (Yamasaki K et al, 2000). COPG2IT1 is located in intron 20 of COPG2 and is an antisense transcript.
COPG2IT1 may be the human orthologue of mouse MestXL, a long transcript which extends in the 3' exon of Copg2 (MacIsaac J L et al, 2012).

Category: Imprinted genes

Links: Gene   Record:629 Last Modified 1/23/2013

Taxon: Human

Chromosome: 07

Location: 7q32.2 (130.0 Mb Build 36.1)

Gene: COPG2 (disputed)

Description: The gamma2 subunit of the coatomer protein complex (COPG2) is immediately adjacent to MEST and was reported to be expressed from the paternal allele in most fetal tissues, but biallelically in fetal brain and liver and in adult blood (Blagitko N et al, 1999). Others found biallelic expression of COPG2 in all fetal tissues and in adult blood lymphocytes (Yamasaki K et al, 2000). Yamasaki et al suggest that apparent imprinting expression of COPG2 might reflect overlapping 3' UTR transcripts from the MEST gene. In mouse Copg2 was reported to be maternally expressed (see mouse 6).

Category: Imprinted genes

Links: Gene   Record:194 Last Modified 11/29/2007

Taxon: Human

Chromosome: 07

Location: 7q32.3

Gene: KLF14

Description: KLF14 (Krüppel-like factor 14) is a maternally expressed intronless transcription factor located telomeric of COPG2 (Parker-Katiraee L et al, 2007).
KLF14 acts as a master trans regulator of adipose gene expression. The expression levels of these are highly correlated with concurrently measured metabolic traits (Small KS, 2011).

Baran Y et al (2015) reported that allelic expression of KLF14 in multiple adult tissues (subcutaneous adipose, visceral adipose, adrenal gland, skeletal muscle and tibial nerve) was consistent with imprinting of this gene (using RNA-seq). No evidence of imprinting of KLF14 was seen in testis and whole blood tissues.

Category: Imprinted genes

Links: Gene   Record:1112 Last Modified 8/3/2017

Taxon: Human

Chromosome: 07

Location: 7q32.3-q34

Gene: "Autism"

Description: Among families with autism, examination of affected sibpairs revealed significant paternal (P = 0.007), but not maternal (P = 0. 75), identity-by-descent sharing at D7S640. Significant linkage disequilibrium was detected with paternal (P = 0.02), but not maternal (P = 0.15), transmissions at D7S1824 in multiplex and singleton families (Ashley-Koch A et al, 1999).

Category: Parental effect

Links: Record:388 Last Modified 11/29/2007

Taxon: Human

Chromosome: 07

Location: 7q35, 151-154 cM

Gene: CNTNAP2 (autism)

Description: There is significant linkage of autism to this region. A single SNP, rs7794745, in intron 2 of CNTNAP2, showed significant association with autism. Among male patients, the transmission frequency was significantly greater from mothers than from fathers (in a smaller group of female patients there was no difference between maternal and paternal transmission) (Arking DE et al 2008).

Category: Parental effect

Links: Gene   Record:1183 Last Modified 1/28/2008

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