Kidney - Loop of Henle Cocuration

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  • Dr. Yasmin Alam-Faruque - EBI. email:
  • Dr. Rebecca Foulger - EBI. email:
  • Dr. Fiona McCarthy - AgBase. email:

Genes of interest to start annotating

This table represents a GO annotation starting list for this project showing the UPKB accession number for each gene and an approximate number of papers from a quick pubmed search for the gene name and the species and kidney function. Please feel free to start annotation whenever suits you and to add comments for discussion and completion date etc. If you come across further genes of interest please add them to the list on this wiki and send them to me so that I can update the xls gene list.

Involvement in kidney function Mouse Human Rat Chicken Xenopus Laevis Xenopus tropicalis Completed Comments*
Tesc Q9JKL5/ 1 Q96BS2/ 1 IPI00769039/ - A0AVX7/ 1 Q5U554/ 1 Q0V9B1/ - yes [YAF] PMID 19345287 state (pg 278, top right) that a lack of kidney expression by immunocytochemistry in mice embryos suggests that TESC might not have a significant role in kidney[RF].

PMID 11145610 states that TESC mRNA was present in mouse fetal testis restricted to the testicular cords but was not expressed in the ovary or metanephros. Col9a3 was present at low levels in female and male gonads at 11.5 days and thereafter upregulated in male gonads only and expression was restricted to testicular cords; Renin was localized in cells of the interstitium and cells at the border between the gonad and mesonephros (from abstract and Fig.6 A-L ISH) [YAF 26/08/09]

Slc23a1 Q9Z2J0/ 3 Q9UHI7/ 7 Q9WTW7/ 4 B9VMA9 (Slc23a2)/ 1 -/ 1 B0JZG0 (Slc23a2)/ - yes [YAF] There's no chicken or Xenopus Slc23a1 TrEMBLs yet: Slc23a2 entries are closest match, tho according to PMID 17689499, Slc23a1 (SVCT1) is expressed in epithelial systems (eg kidney), whereas Slc23a2(SVCT2) is more expressed in metabolic tissues (eg pancreas, brain, adrenals)[RF].

PMID 17258485 demonstrates presence of chicken-specific SVCT1 mRNA (via RT-PCR)in both cultured and native proximal tubule cells using primers derived from chicken ESTs and hence demonstrates vitamin C transport [YAF 28/08/09]

Ctnnb1 Q02248/ 49 P35222/ 84 Q9WU82/ 15 O42486/ 1 P26233/ 4 Q28GC2/ - yes [YAF] RG Wnt signaling target Sept 2010
Lamb1-1 P02469/ 1 P07942/ 1 P15800(Lamb2)/ - O57484/ - Q5XHI6/ - B3DLV1/ - yes [YAF 10/11/09] PMID 12631063 shows that murine laminin-1 is normally downregulated in early stages of glomerular development and is reexpressed in a murine model of Alport disease becoming concentrated in the glomerular basement membrane projections typical of this disorder - maintains expression of collagen alpha1 and alpha2(IV). hence collagen alpha3(IV) is involved in glomerular basement membrane development since in col4a KO mice there is an abnormal GBM characteristic of immature glomeruli. PMID 16041630 shows abnormal basement membrane in the inner ear and kidney of the Mpv17-/- KO mice, therefore Mpv17 is involved in glomerular basement membrane development and inner ear development. PMID 16631359 is just an article on production of mAb against mouse laminin alpha and beta chains but shows expn in adult kidney [YAF 10/11/09].
Egr1 P08046/ 3 P18146/ 9 P08154/ 6 O73691/ - Q6GQH4/ - A4II20/ - yes [YAF 17/11/09] No kidney expression or function for Xenopus Egr1. Induced during mesoderm induction [REF 16/11/09]. Not much for mammalian kidney expression or function. PMID 8530399 shows transcriptional activation/repression of murine egr1 by WT1. PMID 12689920 shows increase in murine egr1 expression by insulin and glucose in murine vascular endothelial cells. PMID 14979875 investigates interaction between human NFATc1 and Sp1/Sp3/EGR1 regulating MT-MMP transcription by glomerular mesangial cells. [YAF 17/011/09]
Pou3f3 (Brn1) P31361/ 3 P20264/ 2 Q63262/ - Q52HB4/O73861/ - P70030 (pou3f2-B)/ - A1L0Z1 (Pou3f4)/ - yes [YAF] PMID 12925600 shows that Brn1 is essential for kidney nephron development and function:-need to request many new terms (see below in Comments section [YAF 18/09/09]. PMID 15249135 shows expression of Brn1 in mouse cortical plate of brain - no functional study in this paper therefore not annotated[YAF 17/11/09]. Annotated Q2VUE0 Quail Brn1) PMID 16498618 to GO:0014033

neural crest cell differentiation/ GO:0021556 central nervous system formation/ GO:0039003 pronephric field specification/ GO:0061219 mesonephric mesenchyme development [YAF 07/09/11]

Id2 P41136/ 4 Q02363/ 1 P41137/ 1 O73933/ - Q9YGL0/ - Q6PBD7/ - Yes [YAF 03/11] Expressed in the developing pronephros in X.laevis (PMID 7734394 and PMID 14651922) but no functional role examined yet[REF 16/11/09].

Id proteins have been shown to disrupt pax interactions with target DNAs, which may explain their role in kidney development (summary from PMID 14651922 based on results in PMID 11134340) [REF 17/11/09]. PMID 7655079 looks at mId3 expression during development of metanephric kidney, tooth development, vertebrate column development and CNS development, so annotated mouse Id3 P41133 to terms with IEP ev code [YAF 17/11/09]. For mouse Id2: PMID 12456807 - not kidney specific but important for mammary gland alveolar epithelial cell differentiation (NTR). PMID 8922523 looks at mRNA expn of mouse Id1/2/3/4 during mouse embryogenesis - Id1-3 seem to be expressed during development of multiple tissues inc. lung/kidney/heart/teeth/cartlage and bone/ vascularization/glandular structures; Id4 seems only to be expressed in the developing neuronal tissues and in ventral epithelium of developing stomach - did not annotate into P2G as it is mRNA expn data?[YAF 24/11/09]

Cdh11 P55288/ 3 P55287/ 1 Q9JIW2/ 1 O93319/ - O93264/ - Q5EAM2/ -
Aldh1l1 Q8R0Y6/ - O75891/ - P28037/ - O93344/ - Q6GNL7/ - Q63ZT8/ -
Tfap2b Q61313/ 3 Q92481/ 3 P58197/ - O93346/ - Q66J14/ - Q28C75/ -
Ttr P07309/ 1 P02766/ 4 P02767/ - P27731/ 1 Q9W649/ 3 A4QNN7/ - Xenopus ttr shows some kidney expression but there are no papers relating to it's role in the kidney.
Ptn P63089/ 2 P21246/ 1 P63090/ 3 P32760/ - P48532/ - A4IH83/ - No evidence for a role in kidney development in X.laevis or X.tropicalis [rf 26.07.10]
Ccnd1 P25322/ 21 P24385/ 24 P39948/ 15 P55169/ - P50755/ - Q6GLD3/ -
Irx3 P81067/ 2 P78415/ - - Q9PUR3/ - O42261/ 1 Q6NVN3/ - (Not on GUDMAP LoH list) comparitive paper PMID 17875669 looking at expression of Irx1, 2 and 3 in the mouse LOH (pg 2361-2362) and the function of Xenopus irx3 in the pronephron:

Expression patterns for Xenopus and mouse (PMID 17875669) suggest a function for Irx3 in patterning the nephron by specifying pronephron intermediate tubule and metanephron Henle's loop fates respectively. The function in frogs is confirmed with knock-outs [RF, 15/09/09].

PMID 18715948 looks at Irx1 and Irx2 in Xenopus pronephros development. .

Irx2 P81066/ 1 Q9BZI1/ - - Q9PU52/ - Q6DCQ1/ - Q66IK1/ - " (Not on GUDMAP LoH list) Need to be slightly cautious about nomenclature for the irx proteins. Human irx3 is called irx1 in some submissions, and mouse irx2 is called irx6 in PMID 10704856, for example. [REF 24/09/09]
Irx1 P81068/ 2 P78414/ - - Q9I9C5/ - Q9YGK8/ 1 Q6F2E3/ - " (Not on GUDMAP LoH list)

PMID 17875669 show Xirx1 is dispensable for kidney development, but PMID 18715948 show Xirx1 and Xirx3 are required early on to maintain kidney field identity, and then later for formation of the intermediate tubule (contained in the LOH in mammals) [REF 25/09/09]

Pax2 P32114/ 40 Q02962/ 34 IPI00364303/ 4 Q9PTX1/ 3 O57685+O57682/ - Q28IR6/ - Yes [marked H, M, R as PAC YAF 04/2011] (Not on GUDMAP LoH list)
Pax8 Q00288/ 23 Q06710/ 22 P51974/ 1 -/ 2 Q9PUK5/ 1 A0JMA6/ - Yes [marked H, M, R as PAC YAF 04/2011] Xpax8 acts together with lhx1/lim-1 to pattern the pronephric mesoderm [RF 2/8/10].
Bmp4 P21275/ 36 P12644/ 23 Q06826/ 6 Q90752/ - P30885/ 1 Q90YD6/ - (Not on GUDMAP LoH list)
Cited1 P97769/ 3 Q99966/ 2 Q4V8P1/ 1 -/ 1 -/ - -/ - yes [YAF 10/11/09] (Not on GUDMAP LoH list) PMID 15843474 shows that rat Cited1 is a bifunctional transcriptional cofacor that regulates early nephronic patterning - it inhibits metanephric mesenchyme to epithelium transition and is also able to block UB branching. PMID 16864582 + PMID 11581164 = human CITED1. PMID 14673158 = mouse cited1 involved in placental development. PMID 17615577 mouse cited 1 and cited 2 not required for nephrogenesis.
Cited2 O35740/ 1 Q99967/ 1 Q99MA1/ - Q9DDW4/ 1 Q5XGW7/ - Q6NX30+Q28GT4/ - yes [YAF 10/11/09] PMID 15051727 shows that human CITED2 interacts with the ligand binding domain of rat PPARA and acts as a coactivator for rat PPARA. Also did microarray analysis to show the effect of CITED2 on gene expression.

No papers for X.laevis or X.tropicalis [REF 16/11/09].

c-myc P01108/ 65 P01106/ 85 P09416/ 19 P01109/ 1 P06171/ 3 Q6P1T1/ - (Not on GUDMAP LoH list) PMID 19161241 investigates role of mouse c-myc in nephrogenesis - c-myc mutants had small kidneys and causes renal hyperplasia [YAF 06/11/09].
Wt1 P22561/ 120 P19544/ 272 P49952/ 33 Q9I8A0+Q9I8A1/ 6 B7ZSG3+P79958/ 6 B5DE03/ - yes [marked H, M, R as PAC YAF 04/2011] (Not on GUDMAP LoH list)

Xwt1 plays a role in glomus (pronephric filter system) development; may repress tubule (and duct?) gene expression in the region of the pronephros fated to become the glomus PMID 8725280 PMID 9758706 [REF 24/11/09]. Most mammalian WT1 papers I have annotated are mainly investigating it's transcription repressor activity of certain genes. PMID 19050011 investigates involvement of WT1 and BASP1 in podocyte differentiation (NTR) [YAF 26/11/09].

Osr1/Odd1 Q9WVG7/ 6 Q8TAX0/ 4 B0K011/ - E1BWE8/ 2 P86413/ Q66JF8/ - yes (H, R, B and M marked as PAC) [YAF 05/04/2011] (Not on GUDMAP LoH list)(Found when doing a PM search on kidney development). PMID 16790474 and PMID 18835385 have led to many new terms needing to be created. Also interestingly, reports that in wild type mice there are 2 types of mesonephric tubules that develop: anterior tubules fuse with the nephric duct and posterior tubules that remain unfused with the duct. In Odd1 mutant mice (+ Wt1 mutants - PMID 9118800) the anterior fused tubules differentiate but the posterior tubules are absent [YAF 23/11/09].
Osr2 Q91ZD1 Q8N2R0 Q6AY34 E1BUP0 Q32NK7+Q0IHB8/ 1 - (Not on GUDMAP LoH list)PMID:17011543 (already annotated by ZFIN and Becky) shows involvement of osr1 and osr2 in xenopus and zebrafish pronephros development (IMP) and also the drosophila odd gene required for Malpighian tubule morphogenesis (IMP)[YAF 01/04/11]
PDGFRB P05622 P09619 Q05030 - - - marked H,M, R as PAC [YAF 08/04/11] (Not on GUDMAP list but on podocyte list - involved in metanephric mesenchyme cell migration in metanephric development (PMID:19019919 ))
PDGFRA P26618 P16234 P20786 Q9PUF6 P26619 A4IHL2 marked H,M, R as PAC [YAF 08/04/11] (Not on GUDMAP list but on podocyte list - involved in metanephric mesenchyme cell migration in metanephric development (PMID:19019919 ))
PDGFB P31240 P01127 Q05028 Q90W23 Q6DDJ9 B1H1E3+B0BM23 marked H,M, R as PAC [YAF 08/04/11] (Not on GUDMAP list but on podocyte list - involved in metanephric mesenchyme cell migration in metanephric development (PMID:19019919 ))
PDGFA P20033 P04085 P28576 Q90WK2+Q9PUF7 P13698 B0BM23 marked H,M, R as PAC [YAF 08/04/11] (Not on GUDMAP list but on podocyte list - involved in metanephric mesenchyme cell migration in metanephric development (PMID:19019919 ))

Comments / Discussion points

  • Comparative paper? PMID 19345287 cites mouse, chicken and xenopus orthologs
  • Drosophila use Malpighian tubules for excretion so there is no loop of Henle as such. However there do seem to be common aspects of renal function in flies and vertebrates as indicated in these recent papers:
  • The kidneys of larval and adult amphibians do not develop loops of Henle (LOH). However, the layout of the amphibian pronephros (the fully functional embryonic kidney, which is indispensable for larval life) is very similar to the mammalian adult metanephric kidney, and contains tubules similar to those that make up the LOH of mammals (PMID 17875669). [REF 16/09/09]

1: Singh SR, Hou SX. Multipotent stem cells in the Malpighian tubules of adult Drosophila melanogaster. J Exp Biol. 2009 Feb;212(Pt 3):413-23. Review. PMID 19151216.

2: Weavers H, Prieto-Sánchez S, Grawe F, Garcia-López A, Artero R, Wilsch-Bräuninger M, Ruiz-Gómez M, Skaer H, Denholm B. The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm. Nature. 2009 Jan 15;457(7227):322-6. Epub 2008 Oct 29. PMID 18971929.

3: Zhuang S, Shao H, Guo F, Trimble R, Pearce E, Abmayr SM. Sns and Kirre, the Drosophila orthologs of Nephrin and Neph1, direct adhesion, fusion and formation of a slit diaphragm-like structure in insect nephrocytes. Development. 2009 Jul;136(14):2335-44. Epub 2009 Jun 10. PMID 19515699.


1. NTR item #2846310: to request a new term 'sodium-dependent L-ascorbic acid transmembrane transporter activity' as mentioned in PMID 10631088 (IDA) for the function of SVCT1/SLC23A1 (Q9UHI7). I'm not sure if it would be a child of either GO:0022857 transmembrane transporter activity or of GO:0008523 sodium-dependent multivitamin transmembrane transporter activity? I also think perhaps that there should be another new term 'L-ascorbic acid transmembrane transporter activity' as a child of GO:0022857 transmembrane transporter activity and GO:0015229 L-ascorbic acid transporter activity and then the term 'sodium-dependent L-ascorbic acid transmembrane transporter activity' could be a child of that (too)? - Midori added: sodium-dependent L-ascorbate transmembrane transporter activity GO:0070890 [YAF 01/09/09]

2. NTR item #2849019: to request new term transepithelial ascorbic acid transport (or transepithelial ascorbate transport) , as a child of GO:0070633 transepithelial transport, for annotation of the SVCT1 and SVCT2 proteins as described in the recent publication PMID 18417304. -Midori added transepithelial L-ascorbic acid transport GO:0070904 [YAF 03/09/09]

For Xenopus irx3 (O42261)

Added SourceForge request: #2859892 for 2 new kidney terms: *SF 2859892: specification of kidney anlage specification of kidney anlage ; GO:NEW, maintenance of kidney anlage identity ; GO:NEW Needed for annotation of PMID 17875669 [REF 16/09/09]

Added SourceForge request: #2860000 for 6 new terms relating to the proximal/distal subdivision of the nephron late in kidney development: *SF 2860000: proximodistal kidney segmentation

    • proximal/distal nephron patterning ; GO:NEW,
    • pronephros proximal/distal patterning ; GO:NEW,
    • specification of nephron tubule identity ; GO:NEW,
    • specification of proximal tubule identity ; GO:NEW,
    • specification of intermediate tubule identity ; GO:NEW,
    • specification of distal tubule identity ; GO:NEW,

[REF 16/09/09]

For Mouse Pou3f3 (Brn1)(P31361)

From PMID 12925600 - IMP studies show that Brn1 is essential for the development and function of the kidney nephron. will need to request new terms (possibly the same as the above 'specification of .....' terms requested by Becky or maybe children of the above? (will need to discuss with Becky)): ie:

    • development(/differentiation/specification) of Loop-of-Henle; GO:NEW, (Fig. 3)
    • development(/differentiation/specification) of distal convoluted tubule; GO:NEW, (Fig 2 and Fig 4)
    • development(/differentiation/specification) of proximal convoluted tubule; GO:NEW, (Fig 2)
    • development(/differentiation/specification) of macula densa; GO:NEW, (Fig 2 and Fig 4)
    • development(/differentiation/specification) of thick ascending limb; GO:NEW, (Fig 2 and Fig 4)
    • development(/differentiation/specification) of thin descending limb; GO:NEW, (Fig. 2)
    • development(/differentiation/specification) of connecting tubule; GO:NEW, (Fig. 2)
    • differentiation of macula densa; GO:NEW, (Fig 4)
    • differentiation of distal convoluted tubule; GO:NEW, (Fig 4)
    • differentiation of thick ascending limb; GO:NEW, (Fig 4)
  • Also Fig.3D (p4755) shows stages in LOH elongation during stages of development. - Anlage (in cortex) -> Primitive loop (in cortex and just entering the medulla) -> Immature loop (throughout medulla reaching to the papilla). [YAF 30/09/09]

For Xenopus irx3 (O42261) and Mouse Pou3f3 (Brn1)(P31361)

    • Expanded the set of new P/D patterning terms I've requested in SF #2860000, to include terms for the macula densa and LOH. [REF 13/10/09]

For P19091 (ANDR_MOUSE)

  • From PMID 11997177 -needed NTR for POU domain binding as a child of GO:0019904 protein domain specific binding.

This is required for annotation of the binding of Androgen receptor protein to the POU domains of Brn1 and Oct1 proteins in PMID 11997177. 'POU domain binding'- GO NEW possible definition: "Interacting selectively and non-covalently with a POU domain of a protein, In eukaryotes, the POU proteins are usually transcription factors" SF#2871338 (YAF 01/10/09). Midori added POU domain binding GO:0070974.

For rat Cited1 (Q4V8P1)

    • requested new term for 'negative regulation of embryonic axis specification' as a child of GO:0000578 embryonic axis specification SF# 2883925 ( for annotation of the rat Cited1 gene, which, when ectopically expressed in Xenopus embryo, blocks axis formation as investigated in PMID 15843474. Response from David Hill said: 'the action of the Cited1 in the experiment that you reference is an example of a dominantgain-of-function experiment. So it is not clear that the Cited1 is playing its normal role. .'
    • requested new term for "metanephric mesenchyme to epithelial transition" as a child of GO:0060231 mesenchymal to epithelial transition which could also be a child of GO:0001656 metanephros development and the new term "negative regulation of metanephric mesenchyme to epithelial transition"(GO NEW) as a child of "metanephric mesenchyme to epithelial transition". SF# 2884040 (; required for annotation of rat cited1 (Q4V8P1) blocking epithelial morphogenesis in metanephric organ culture in PMID 15843474. [YAF 22/10/09]. (David added: metanephros morphogenesis; GO:0003338/ mesenchymal to epithelial transition involved in metanephros morphogenesis; GO:0003337/ regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; GO:0003339/ negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; GO:0003340)[YAF 24/11/09]

For mouse Cited1 (P97769)

    • PMID 9811838: requested geneontology-Ontology requests-2893305 NTR: response to interleukin-6/9/11. the following new terms as children of GO:0034097 response to cytokine stimulus: -response to interleukin-6; -response to interleukin-9; -response to interleukin-11[YAF 06/11/09] (Midori added response to interleukin-9 GO:0071104 and response to interleukin-11 GO:0071105 on 09/11/09)[YAF 09/11/09]. PMID 18187554 requested NTR SF#2895106 'response to parathyroid hormone' (as a child of GO:0009725) requested 10/11/09 (Midori added response to parathyroid hormone stimulus GO:0071107).

For Mouse c-myc (P01108)

    • PMID 19161241: requested geneontology-Ontology requests-2893199 NTR +ive regulation of cap mesenchymal cell proliferation as a child of GO:0002053 positive regulation of mesenchymal cell proliferation. [YAF 06/11/09]. David Hill added on 13/11/09: metanephric cap mesenchymal cell proliferation; GO:0090094

regulation of metanephric cap mesenchymal cell proliferation; GO:0090095 positive regulation of metanephric cap mesenchymal cell proliferation; GO:0090096

For Mouse Osr1/Odd1 (Q9WVG7)

requested new terms: SF 2902547 Requested the following new kidney development related terms as indicated. I have tried to fit them into some kind of order by suggesting under which parent term they should be but wasn't too sure.

    • From PMID 16790474 mouse odd1 Q9WVG7 OSR1_MOUSE and Chick Odd1 (no protein/ nucleotide/ IPI entry)

(Osr1-/- deleted mutants used for mouse and chick embryo analysis -IMP).

      • mesenchyme development GO:0060485
      • --<metanephric mesenchyme development GO:NEW
      • mesenchymal cell differentiation GO:0048762
      • --<mesenchymal cell differentiation involved in kidney development GO:NEW
      • --<metanephric mesenchymal cell differentiation GO:NEW
      • to add to Beckys SF #2860000 request for
      • term: specification of nephron tubule identity/differentiation GO:NEW (Becky) (synonym- nephric tubule)
      • -<specification of mesonephric tubule identity/differentiation GO:NEW
      • --<specification of anterior mesonephric tubule identity/differentiation GO:NEW
      • --<specification of posterior mesonephric tubule identity/differentiation GO:NEW
      • tube development GO:0035295
      • --<kidney tubule development GO:NEW
      • --<metanephric tubule formation/development GO:NEW
      • --<mesonephric tubule formation/development GO:NEW
      • epithelial tube morphogenesis GO:0060562
      • --<kidney epithelial tube morphogenesis GO:NEW
      • tube morphogenesis GO:0035239
      • --<nephric duct morphogenesis/formation GO:NEW
      • --<mesonephric duct morphogenesis/formation GO:NEW
      • cell differentiation GO:0030154
      • --<kidney tubule cell differentiation GO:NEW
      • --<regulation of kidney tubule cell differentiation GO:NEW
      • -<negative regulation of kidney tubule cell differentiation GO:NEW
      • kidney precursor cell proliferation GO:NEW.
    • From PMID 18835385 mouse osr1/odd1 Q9WVG7 OSR1_MOUSE

(used temporal fate mapping - Osr+progenitor cells - IMP/IDA?)

      • renal vesicle progenitor cell differentiation GO:NEW
      • vasculature development GO:0001944
      • --<renal vasculature development-GO:NEW
      • mesenchyme development GO:0060485
      • --<cap mesenchyme development/formation/specification GO:NEW
      • --<cortical interstitial mesenchyme development/formation/specification GO:NEW
      • epithelial cell differentiation GO:0030855
      • --<ureteric epithelial cell differentiation GO:NEW
      • smooth muscle cell differentiation GO:0051145
      • --<renal smooth muscle cell differentiation GO:NEW [YAF 23/11/09]

For Zebrafish Osr1/Odd1 (Q5XJQ7)

For PMID 18787069 - requested new terms (IMP) for pronephric glomerulus morphogenesis, pronephric proximal tubule development, pronephric distal tubule development, pronephric nephron tubule epithelial cell differentiation angioblast cell differentiation SF 3264580 [YAF 31/03/11] new terms created 04/04/11 are: pronephric glomerulus morphogenesis ; GO:0035775 pronephric proximal tubule development ; GO:0035776 pronephric distal tubule development GO:0035777 pronephric nephron tubule epithelial cell differentiation ; GO:0035778 angioblast cell differentiation ; GO:0035779

For Mouse Id2 (P41136)

PMID 12456807 - requested new term for "mammary gland alveolar epithelial cell differentiation" SF 2903147 [YAF 24/11/09].

For Mouse Id2 (P41136)

  • Requested the new term: "embryonic endodermal gut morphogenesis" as a child of 'GO:0048558 embryonic gut morphogenesis' to annotate mouse Id2 (P41136) from PMID 16888283; which shows that Id2 is expressed from the period of definitive endoderm before E10.5 and these cells begin to form villi in the small intestine. *SF-SF 2903221: embryonic endodermal gut morphogenesis
  • Requested the new term "Mammary gland alveolus epithelial cell differentiation" as a child of 'GO:0060749 mammary gland alveolus development'; required for annotation of mouse Id2 P41136 in PMID 12456807. *SF-SF 2903147: mammary gland alveolus development [YAF 24-26/11/09]

For Xenopus wt1 (B7ZSG3 and P79958)

Requested new term for glomus development in SF:2903833. Ties in with Yasmin's previous request for a 'renal vasculature development' term (SF:2902547) [REF 24/11/09]

For Mouse Wt1 (P22561)/ Human WT1 (P19544)/ Human BASP1 (P80723) and mouse Basp1 (Q91XV3)

  • To request new term for 'Podocyte differentiation' (IDA)- from PMID 19050011 [YAF 26/11/09]
    • Glomerulus development GO:0032835
      • --<Podocyte development GO:NEW
      • --<Podocyte differentiation GO:NEW (IDA) (NB: this could also be a child of GO:0030855 epithelial cell differentiation)

(Podocytes (or visceral epithelial cells) are cells of the visceral epithelium in the kidneys and form a crucial component of the glomerular filtration barrier, contributing size selectivity and maintaining a massive filtration surface. Adjacent podocytes interdigitate to cover the basal lamina which is intimately associated with the glomerular capillaries, but the podocytes leave gaps or thin filtration slits. The slits are covered by slit diaphragms which are composed of a number of cell-surface proteins including nephrin, podocalyxin, and P-cadherin, which ensure that large macromolecules such as serum albumin and gamma globulin remain in the bloodstream. Small molecules ie: water, glucose, and ionic salts are able to pass through the slit diaphragms and form an ultrafiltrate which is further processed by the nephron to produce urine. Podocytes are also involved in regulation of glomerular filtration rate (GFR). When podocytes contract, they cause closure of filtration slits. This decreases the GFR by reducing the surface area available for filtration) Requested 02/12/09 SF 2907403[YAF 02/12/09].

  • For Human WT1 (P19544) and mouse Wt1 (P22561) PMID 10101119: requested new term 'epicardial (or epicardium) development' as a child of 'GO:0007507 heart development' SF 2908137 [YAF 03/12/09]
  • For mouse Wt1 (P22561) PMID 10077614 will need NTR Mesangium development: updated the following SF request: SF 2905937[YAF 07/12/09]
  • For Human WT1 (P19544) From PMID 8132626, requested the new term "Basal transcription activator activity " as a child of 'GO:0016563 transcription activator activity': SF 2905055 [YAF 27/11/09]

For Rat Egr-1 (PO8154)

To request new terms From PMID 8910451 rat EGR1

    • glomerulus development GO:0032835
      • --<Glomerular mesangium development GO:NEW [Defn The progression of the glomerular mesangium over time from its initial formation until its mature state. The glomerular mesangium is the thin membrane connective tissue composed of mesangial cells, which helps to support the capillary loops in a renal glomerulus].
      • --<Glomerular mesangium cell proliferation GO:NEW (IDA) [Defn: The multiplication or reproduction of glomerular mesangium cells by cell division, resulting in the expansion of their population. Mesangial cells are myofibroblasts phenotypically related to vascular smooth muscle cells, which make up the composition of the glomerular mesangium. The glomerular mesangium is the thin membrane which helps to support the capillary loops in a renal glomerulus] SF 2905937.[YAF 27-30/11/09].
    • NTR "(cellular) response to heparin" (as a possible child of GO:0009991 response to extracellular stimulus)SF 2905921. [YAF 30/11/09]. Midori added response to heparin GO:0071503 and cellular response to heparin GO:0071504 18/12/09.

From PMID 18723570 New term requested for "(cellular) response to mycophenolic acid" as a child of response to drug GO:0042493 SF 2905973 for rat Egr1 and rat PDGFB (Q05028)[YAF 30/11/09]. Midori added response to mycophenolic acid GO:0071505 and cellular response to mycophenolic acid GO:0071506 18/12/09.

For Human BMP4 (P12644)

  • SF#2907000: requested the new term 'positive regulation of kidney development' GO:NEW as a child of kidney development GO:0001822 (IDA) as investigated in PMID 10021330. Also asked for addition of the term 'Nephrogenesis' to be added as an exact synonym of kidney development SF 2907000.

David Added: regulation of kidney development ; GO:009018/ positive regulation of kidney development ; GO:0090184/ negative regulation of kidney development ; GO:0090185. Added synonym, but made it related because some folks refer to nephrogenesis as just the formation of the kidney. 18/12/09.

Also need NTR nephric duct morphogenesis which has been requested in SF# 2902547 [YAF 01/12/09].

  • SF#2914121: requested new terms from PMID 12141440 for recombinant human BMP4 (P12644) and recombinant mouse Noggin (P97466):

GO:0032835 glomerulus development --< regulation of glomerulus development GO:NEW --<negative regulation of glomerulus development GO:NEW --<positive regulation of glomerulus development GO:NEW

Also as an extension to SF#2912058 requested 10/12/09 GO:0001658 branching involved in ureteric bud morphogenesis --<regulation of branching involved in ureteric bud morphogenesis GO:NEW --<negative regulation of branching involved in ureteric bud morphogenesis GO:NEW --<positive regulation of branching involved in ureteric bud morphogenesis GO:NEW SF 2914121 [YAF 17/12/09]

David Added: regulation of branching involved in ureteric bud morphogenesis ; GO:0090189/ positive regulation of branching involved in ureteric bud morphogenesis ; GO:0090190/ negative regulation of branching involved in ureteric bud morphogenesis ; GO:0090191 regulation of glomerulus development ; GO:0090192/ positive regulation of glomerulus development ; GO:0090193/ negative regulation of glomerulus development ; GO:0090194. 18/12/09.

PMID 12399320: GO:0010464 regulation of mesenchymal cell proliferation NTR: negative regulation of mesenchymal cell proliferation GO:NEW/ --<negative regulation of mesenchymal cell proliferation involved in kidney development GO:NEW/ --< negative regulation of ureteral mesenchymal cell proliferation SF 2916204.[YAF 18/12/09]

Mouse Shh (Q62226)

PMID 12399320: GO:0010463 mesenchymal cell proliferation/ --<mesenchymal cell proliferation involved in kidney development GO:NEW/ --<metanephric mesenchymal cell proliferation GO:NEW/ --<condensed mesenchymal cell proliferation GO:NEW/ --<ureteral mesenchymal cell proliferation GO:NEW SF 2916204.

Also updated SF 2902547 smooth muscle cell differentiation GO:0051145/ --<renal smooth muscle cell differentiation GO:NEW maybe could have --<smooth muscle cell differentiation involved in kidney development GO:NEW/ --<positive regulation of smooth muscle cell differentiation involved in kidney development GO:NEW/ --<negative regulation of smooth muscle cell differentiation involved in kidney development GO:NEW [YAF 18/12/09]

Mouse BMP7 (P23359) and mouse SMAD4 (P97471)

For annotation of PMID 15342483, mouse BMP7 (P23359) and mouse SMAD4 (P97471); Requested the following new terms in SF:#2926832 SF 2926832 mesenchyme development GO:0060485/ --<metanephric mesenchyme development GO:NEW (as requested in SF#2902547/ --<nephrogenic mesenchyme development GO:NEW/ --<metanephric mesenchyme morphogensis GO:NEW/ --<nephrogenic mesenchyme morphogenesis GO:NEW [YAF 08/01/10]

Kidney Development Review Papers

  • PMID 15554941 Transcriptional control of kidney development. Bouchard M. 2004. Talks about genes involved in nephric lineage specification (Pax2/Pax8/Lim1/Bmp4/Wt1/GDNF1/Eya1/Foxc1); metanephros development - UB positioning, induction, nephron induction, ureter branching, Stromal cell differentiation(Gdnf1/Eya1/Foxc1/2/Slit2/Robo2/Bmp4/Pax2/Hox11(HoxA11/C11/D11)/ Sall1/Wt1/Six1/Wnt4/Emx2/Gata3/BF2/Pod1/Pbx21.
  • PMID 15380247 Recent genetic studies of mouse kidney development. Yu J, McMahon AP, Valerius MT. 2004. Has a nice diagram of the stages of nephron formation on p.551. Also lists genes investigated with particular molecular regulation of outgrowth of the uteric bud and regulation of tubulogenesis (Table 1; p552 - Gdf1, Six1, Slit2/Robo2, Wnt1, Fras1+Grip1, Pod1, Pbx1, Brn1, Psen1/2).
  • PMID 16760375 Role of transcriptional networks in coordinating early events during kidney development. Boyle S, de Caestecker Mark. 2006. Has nice diagrams of stages of early mammalian kidney development. Reviews transcription factors in mesenephric mesenchyme: Eya1/ Foxc1/2/ Hoxa/c/d11/ Pax2/ Pbx1/ Rar-alpha/beta2/ Sall1/ Six1/ Wt1.
  • PMID 12094231 Coordinating early kidney development: lessons from gene targeting. Vainio S, Lin Y. 2002. Nice diagrams of kidney development. List of genes essential for early kidney development (Transcription Factors: Emx2/Eya1/Foxc1/Foxd1/Pax2/Rara,Rarb/Sall1/Wt1; Growth factors: Bmp4/Bmp7/Fgf7/Gdnf/Wnt4; Growth factors/receptors: Gfra1/Notch2/Ret; Proteoglycans and their biosynthetic enzymes: Hs2st/Gpc3.

Project Background

Kidney Loop of Henle GO Cocuration Project

Kidney Development